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Pulmonary Alveolar Proteinosis Wikipedia

Jose Ramirez-Rivera at the Veterans' Administration Hospital in Baltimore, [28] who described repeated "segmental flooding" as a means of physically removing the accumulated alveolar material. [29] Research [ edit ] PAP is one of the rare lung diseases currently being studied by The Rare Lung Diseases Consortium (RLDC).

CSF2RA, CSF2RB, SFTPC, CSF2, ABCA3, SFTPB, MARS1, NPC2, SLC7A7, PPARG, PARP9, CEL, SFTPD, SLC27A5, IL5, BACH2, SLA2, IL3, ABCG1, IL10, SOAT1, ABCA1, VDR, SLC7A6, FCGR2C, IL22, IL17F, PLF, SFTPA1, FARSB, IL17A, OAS1, MUC1, ABL1, ADA, CD36, CD40LG, CEACAM5, CHI3L1, CSF1, CYP27A1, DMBT1, ENO2, FCGR2A, FCGR2B, IFNG, IL1A, IL1B, IL6, ITGAX, CCR2
Cardiac Fibrosis Wikipedia

Surgical tricuspid valve replacement , sometimes combined with a pulmonary valve replacement, can be necessary in some patients. [28] A compound found in red wine, resveratrol has been found to slow the development of cardiac fibrosis. [29] [30] [31] More sophisticated approaches of countering cardiac fibrosis like microRNA inhibition ( miR-21 , for example) are being tested in animal models.

FKTN, LAMP2, TRIM37, PPA2, JPH2
Gastroparesis Wikipedia

Sildenafil citrate , which increases blood flow to the genital area in men, is being used by some practitioners to stimulate the gastrointestinal tract in cases of diabetic gastroparesis. [28] The antidepressant mirtazapine has proven effective in the treatment of gastroparesis unresponsive to conventional treatment. [29] This is due to its antiemetic and appetite stimulant properties.

HMOX1, POLG, TRNL1, HTRA2, COX1, COX2, COX3, ND1, ND4, ND5, ND6, TRNF, TRNH, CLASP1, RRM2B, TRNS1, TRNS2, TRNW, PARK7, POLG2, PRKN, PODXL, DNAJC6, SNCA, SON, TRNQ, UCHL1, VPS13C, SPATA5, ATP7A, PINK1, IRF2BPL, TYMP, SELENON, TWNK, SLC25A4, TMEM70, RNU4ATAC, LRRK2, GCG, GHSR, GABPA, MLN, NFE2L2, ALB, SYMPK, MGAM, GPR55, GOLGA6A, CCR9, NPNT, EHMT1, CD160, MLIP, RETNLB, B3GAT1, SOX6, RCBTB1, ANO1, TNF, PART1, ABL2, NOS1, TAC1, SRF, AMBP, APOE, FAS, ARG1, STS, RERE, CCK, CHAT, CSF1, DUSP1, FAAH, FOXF1, FOXF2, GFAP, GH1, GLP1R, HCRTR1, HTR4, IL1B, IL6, KIT, MRC1, OPRM1, PAEP, PDGFRA, MAPK8, PRL, SCN10A, SI, AK6
- Gastroparesis Gard
  
  Gastroparesis , or delayed gastric emptying, is a disorder where the food does not move or moves very slowly from the stomach to the small intestine . In gastroparesis, the muscles of the stomach do not work well and digestion takes an abnormally long time. Symptoms of gastroparesis include bloating, nausea, vomiting, weight loss due to poor absorption of nutrients, early fullness while eating meals, heartburn, and abdominal pain. Complications can occur including dehydration, electrolyte abnormalities, blood sugar abnormalities, malnutrition, vitamin deficiencies, stomach ulcers , gastroesophageal reflux , esophagitis , small bowel bacterial overgrowth , and metabolic bone disease. In rare cases, food that is poorly digested can collect in the stomach and form a bezoar, a mass of undigested material that can cause a blockage in the gastrointestinal tract.
- Gastroparesis Mayo_clinic
  
  Overview Gastroparesis is a condition that affects the normal spontaneous movement of the muscles (motility) in your stomach. Ordinarily, strong muscular contractions propel food through your digestive tract. But if you have gastroparesis, your stomach's motility is slowed down or doesn't work at all, preventing your stomach from emptying properly. The cause of gastroparesis is usually unknown. Sometimes it's a complication of diabetes, and some people develop gastroparesis after surgery. Certain medications, such as opioid pain relievers, some antidepressants, and high blood pressure and allergy medications, can lead to slow gastric emptying and cause similar symptoms.
Penile Cancer Wikipedia

The overall 5-year survival rate for all stages of penile cancer is about 50%. [22] Epidemiology [ edit ] Penile cancer is a rare cancer in developed nations with annual incidence varying from 0.3 to 1 per 100,000 per year accounting for around 0.4–0.6% of all malignancies. [4] The annual incidence is approximately 1 in 100,000 men in the United States, [26] 1 in 250,000 in Australia, [27] and 0.82 per 100,000 in Denmark. [28] In the United Kingdom, fewer than 500 men are diagnosed with penile cancer every year. [13] [29] However, in the developing world penile cancer is much more common.

TP53, PIK3CA, KRAS, HRAS, CDKN2A, EGFR, AKT1, SMUG1, PIK3CD, PIK3CB, PIK3CG, H3P10, GPS1, MIR204, CEACAM19, CD274, AGO2, CADM1, BIRC5, RASSF1, RASSF2, TNFSF10, DYNLL1, TYMS, KLK3, FAT1, THBS1, TRBV20OR9-2, SOX9, RPS29, PTHLH, ANXA1, AR, CASP8, CSN1S1, MGMT, DNMT3B, EGF, TLR4
Fatal Insomnia Wikipedia

Other research interests involve identifying biomarkers to track the progression of prion disease in living people. [28] [29] Popular culture [ edit ] In the 2018 novel and online short story series "Tales from the Gas Station" the main character, Jack, believes that he suffers from fatal familial insomnia.

PRNP, C4BPA, CARD14, GLS, ABCB6, PRDX2, RYR2, ZBTB38, MLKL, MPRIP, RIPK3, UQCRC2, SDHB, AQP1, RASA2, TSPO, PRL, NDUFB8, COX2, MDH1, GH1, GFAP, CSNK2A2, CHI3L1, MIR146A
- Fatal Familial Insomnia Omim
  
  A number sign (#) is used with this entry because fatal familial insomnia (FFI) is associated with mutation in the prion protein gene (PRNP; 176640). Description Fatal familial insomnia is a prion disorder showing autosomal dominant inheritance. It is clinically characterized by insomnia with or without a diurnal dreaming state, hallucinations, delirium, and dysautonomia preceding motor and cognitive deterioration. FFI is specifically associated with the asp178-to-asn mutation of the PRNP gene (D178N; 176640.0010) when the amino acid at position 129 is methionine (M129V; 176640.0005). The D178N mutation and the val129 allele results in Creutzfeldt-Jacob disease (CJD; 123400) (see 176640.0007) (Goldfarb et al., 1992).
- Fatal Familial Insomnia Orphanet
  
  Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.
- Fatal Familial Insomnia Gard
  
  Fatal familial insomnia (FFI) affects the thalamus , the part of the brain that controls the sleep-wake cycle. Symptoms typically begin between the ages of 40-60 years. The most common symptoms are sleep disturbance, psychiatric problems, weight loss, and balance problems. Other symptoms include high blood pressure, excess sweating, and difficulty controlling body temperature. These symptoms tend to get worse over time. FFI is usually fatal in 6-36 months. Almost all cases of FFI occur due to a specific variant in the PRNP gene and are inherited in an autosomal dominant pattern.
Glutaric Acidemia I Omim

Morton et al. (1991) presented a pedigree chart tracing both parents of all except one case to John Lapp and his wife, who immigrated to the United States in the 1730s. The oldest patient was a 28-year-old man who was normal until age 3 months when, after a period of irritability and poor feeding on day 7 of a varicella infection, he experienced an acute, afebrile episode of tonic posturing and thereafter became flaccid and unresponsive.

GCDH, SYCE2, GAD1, IL2, DHTKD1
- Glutaric Acidemia Type 1 Gene_reviews
  
  Summary Clinical characteristics. The phenotypic spectrum of untreated glutaric acidemia type 1 (GA-1) ranges from the more common form (infantile-onset disease) to the less common form (later-onset disease – i.e., after age 6 years). Of note, the GA-1 phenotype can vary widely between untreated family members with the same genotype, primarily as a function of the age at which the first acute encephalopathic crisis occurred: three months to six years in infantile-onset GA-1 and after age six years in later-onset GA-1. Characteristically these crises result in acute bilateral striatal injury and subsequent complex movement disorders. In the era of newborn screening (NBS), the prompt initiation of treatment of asymptomatic infants detected by NBS means that most individuals who would have developed manifestations of either infantile-onset or later-onset GA-1 remain asymptomatic; however, they may be at increased risk for other manifestations (e.g., renal disease) that are becoming apparent as the understanding of the natural history of treated GA-1 continues to evolve. Diagnosis/testing. Because the early initiation of treatment dramatically improved the outcome for persons with GA-1, an international guideline group has recommended NBS.
- Glutaryl-Coa Dehydrogenase Deficiency Orphanet
  
  Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder. Epidemiology Worldwide prevalence is estimated at 1 in 100,000 births. GDD is more prevalent in the old order Amish community, Canadian Oji-Cree natives, Irish travelers and Lumbee Native Americans. Clinical description Neonates are mainly asymptomatic, although 75 % present with macrocephaly and possibly show hypotonia and irritability. If undiagnosed, the initial acute encephalopathic crisis occurs between 3-36 months, typically precipitated by an intercurrent febrile illness, vaccination or a surgical intervention, and characterized by hypotonia, loss of motor skills and convulsions resulting in bilateral striatal injury with severe secondary dystonia and occasionally subdural and retinal hemorrhage.
- Glutaric Aciduria Type 1 Wikipedia
  
  "Glutaric aciduria" redirects here. For a similar metabolic condition, see Glutaric acidemia type 2 . Glutaric acidemia type 1 Other names Glutaric aciduria , GA1 , GAT1 Glutaric acid Specialty Endocrinology Glutaric acidemia type 1 is an inherited disorder in which the body is unable to completely break down the amino acids lysine , hydroxylysine and tryptophan . Excessive levels of their intermediate breakdown products ( glutaric acid , glutaryl-CoA , 3-hydroxyglutaric acid , glutaconic acid ) can accumulate and cause damage to the brain (and also other organs [1] ), but particularly the basal ganglia , which are regions that help regulate movement. GA1 causes secondary carnitine deficiency, as glutaric acid , like other organic acids , is detoxified by carnitine . Mental retardation may also occur. Contents 1 Signs and symptoms 1.1 GA1 without encephalopathic crisis 1.1.1 Macrocephaly 1.2 GA1 after an encephalopathic crisis 1.2.1 Neuromotor aspects 1.2.1.1 Occupational therapy 1.2.2 Bleeding abnormalities 2 Genetics 3 Diagnosis 4 Treatment 4.1 Correction of secondary carnitine depletion 4.2 Precursor restriction 4.2.1 Selective precursor restriction 4.2.1.1 Tryptophan 4.2.1.2 Lysine 4.2.2 Protein restriction 4.3 Enhancement of precursor's anabolic pathway 4.3.1 Lysine and hydroxylysine anabolic pathway enhancement 4.3.1.1 Interaction of GCDH deficiency with GLO deficiency 4.3.2 Tryptophan anabolic pathway enhancement 4.3.3 Management of intercurrent illnesses 5 Prognosis 6 Epidemiology 7 References 8 Further reading 9 External links Signs and symptoms [ edit ] The severity of glutaric acidemia type 1 varies widely; some individuals are only mildly affected, while others suffer severe problems.
- Glutaric Acidemia Type I Medlineplus
  
  Glutaric acidemia type I (also called glutaric aciduria type I) is an inherited disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. People with glutaric acidemia type I have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels of these amino acids and their intermediate breakdown products can accumulate and cause damage to the brain, particularly the basal ganglia, which are regions that help control movement.
- Glutaric Acidemia Type I Gard
  
  Glutaric acidemia type I (GA1) is a genetic metabolic disorder. People with GA1 don't make enough of one of the enzymes needed to break down certain amino acids found in the proteins we eat. Without enough of the enzyme, the breakdown products of these amino acids build up in tissues of the body. The buildup of these chemicals can damage the brain, especially the area of the brain called the basal ganglia. The basal ganglia helps control the body's movements. Without treatment, newborns with GA1 may at first not have any symptoms other than possibly having a slightly large head. Some, however, may have weak muscles and early signs of developmental delay.
Mitochondrial Dna Depletion Syndrome Wikipedia

"Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions". Nature Genetics . 28 (3): 211–2. doi : 10.1038/90034 .

TK2, POLG, TFAM, FBXL4, DGUOK, MPV17, SUCLA2, TWNK, RRM2B, SUCLG1, POLG2, DGKB, DGKE, SLC25A21, PPA2, MFN2, TOMM20, TRMU, CHMP1B, VEGFA, ACO2, SMN2, PARP1, PIK3CG, PIK3CD, PIK3CB, PIK3CA, OPA1, IRS1, HIF1A, FXN, DTYMK, CS, CD44, CASP3, SMN1
- Mitochondrial Dna Depletion Syndrome Orphanet
  
  The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.
Neonatal Sepsis Wikipedia

Journal of Clinical Monitoring and Computing . 28 (4): 329–339. doi : 10.1007/s10877-013-9530-x .

SERAC1, CRP, ZMPSTE24, IL7R, COG4, IL6, FCGR1A, MBL2, IL10, MFGE8, TNF, VDR, RETN, RIPK3, PART1, MBL3P, GDE1, IL17D, MYDGF, CD14, HAMP, ZNF410, NOD2, HDAC6, BCL11B, IL33, IL27, MIR150, MIR15A, MIR300, NAMPT, TLR4, EOS, PRKAA1, MAPK14, CSF2, CSF3, EGF, IL1A, IL4, LAMC2, PIK3CA, PRKAA2, CXCR4, PRKAB1, PRSS1, S100A1, S100A12, S100B, CXCL12, ST14, CIRBP, MIR1290
Tonsil Carcinoma Wikipedia

. ^ Westra, William H.; Lewis, James S. (2017-02-28). "Update from the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Oropharynx" .

CDKN2A, H3P10, EGFR, TP53, PIK3CA, PIK3CG, DEFB4B, MAGEA2B, SMUG1, XRCC5, SKP1, PTEN, PRKDC, CCNB1, PIK3CD, CDH1, MAGEA2, HPV6AI1, HIF1A, FGFR3, DEFB4A, CTNNB1, PIK3CB
Cocaine Dependence Wikipedia

American Journal of Clinical Hypnosis . 47 (1): 21–28. doi : 10.1080/00029157.2004.10401472 .

DRD2, SLC6A3, OPRK1, GABRA2, OPRM1, SLC6A4, PDYN, CNR1, DRD3, COMT, CREB1, NPY, CAMK4, HTR1B, FAM53B, DBH, BCHE, NR3C1, OPRD1, BDNF, CHRNA5, NSF, GRM5, TPH2, HCRT, CHRNB3, PER2, HCRTR1, NPY2R, GSTP1, MECP2, MAOA, HTR2A, ADRA1A, PAWR, GALR1, SLC18A2, TACR3, HOMER2, HOMER1, CLOCK, CARTPT, HDAC5, SIGMAR1, NCS1, PRMT6, ANKK1, MIR212, CDNF, PER1, MAPK3, DRD1, CRHR1, GRK3, CAMK2A, ARRB2, CHRNA3, CDK5, LRRC7, SMURF1, CALM1, TENM3, GHRL, KLHL5, SYT13, AGO2, GPSM1, APOL2, EHMT2, ARC, ICE2, CALM2, GPHN, HDAC4, CAMK2B, RUNX2, GAD1, SCARB1, RPS6KA5, CES2, GCC1, GAD2, CES1, MIR181A1, MIR301B, MIR665, NPS, MIR488, MIR384, MIR380, MIR369, MIR376C, MIR337, MIR324, MIR148B, RHOA, MANEA, MIR186, MIR154, MIR138-1, MIR137, MIR136, MIR130A, CCSER1, ATP9B, AVP, COL21A1, SRCIN1, TYK2, CCKBR, POMC, JUND, MAPK1, SNCA, HTR1A, FDFT1, EGR1, NGF, ILK, DNAH8, FGF2, SMAD1, NTRK2, CRHR2, CHRNB4, SMAD3, CRH, CRHBP, ESR2, SMAD5, FOS, SLC1A2, GDNF, SMARCA4, GRIA1, GRIA2, CHRM5, GRIN1, MC4R, GABRG2, SNORD15A, GABBR1, FOSB, PRL, NCOR2, OR3A2, PNOC, NOL3, SPINT2, TAAR1, CACNA1D, OPRL1, PWAR4, CPP, EXTL3, MIR124-1, MIR124-3, LEP, MIR153-1, HTR2C, KCTD20, MIR9-1, HMGB1, GRM2, GLI2, LINC02052, SST, C1QL2, LINC01854, TLR3, TLR4, UMOD, CHRM4, CHRNA6, KALRN, F2RL3, CCT, RGS4, MAP2K1, ADRB2, ATP2C2, NFAT5, PIK3CG, WDHD1, BAZ1A, STK38, NTNG1, PIK3CD, PIK3CB, BRD4, SMUG1, PIK3CA, ABCB1, CCR5, NLN, DRD4, NTNG2, OPN4, LINC02210-CRHR1
Primary Aldosteronism Wikipedia

. ^ a b c d "Primary hyperaldosteronism (Conn's syndrome or aldosterone-producing adrenal tumor)" . Archived from the original on 28 March 2015 . Retrieved 8 April 2015 . ^ a b c Hubbard JG, Inabnet WB, Heerden CL (2009).

CLCN2, CYP11B2, CYP11B1, CACNA1D, ATP1A1, ATP2B3, CACNA1H, SLC12A3, CLCNKB, KCNJ5, NR3C2, POMC, REN, FAM131A, AGTR1, FLNB, AGT, ENPEP, CTNNB1, PTH, ARMC5, KCNK5, EDN1, SLC33A1, NR5A1, ADIPOQ, PGR-AS1, CYP17A1, CRY1, HSD3B2, ATM, SCNN1B, RET, PTX3, SIAH1, PMPCA, CHST3, SRA1, ATP6AP2, APBB3, UTS2, VPREB3, KCNK9, LGALS14, NGB, PPP1R2C, MTDH, NLRP3, MIR21, MIR375, PRKACA, ADD1, PCP4, SERPINE1, AGTR2, NR0B1, APOA1, ATF3, CASP1, SCARB1, CD44, CDKN1C, CPA1, CRY2, CYP21A2, SLC26A2, GCG, GNAS, GNRH1, GNRHR, HSD3B1, KCNK3, KNG1, KRAS, LGALS3, CYP4F3, MC2R, MSR1, MT3, NHS, NPPA, LHCGR
Lipodystrophy, Familial Partial, Type 2 Omim

Fifty-four percent of LMNA-mutated women exhibited a clinical phenotype of PCOS, 28% suffered from infertility, 50% experienced at least one miscarriage, 36% developed gestational diabetes, and 14% experienced eclampsia and fetal death.

LMNA, PPARG, AKT2, CAV1, LIPE, PLIN1, CIDEC, ZMPSTE24, INSR, CCND3, DPP4, HNF4A, LEP, LPL, ITM2A, SOST
- Dunnigan Familial Partial Lipodystrophy Wikipedia
  
  Familial Partial Lipodystrophy, Dunnigan Type Autosomal dominant is the manner of inheritance of this condition Dunnigan-type familial partial lipodystrophy , also known as FPLD Type II and abbreviated as ( FPLD2 ), is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities , trunk , and gluteal region . FPLD recapitulates the main metabolic attributes of the insulin resistance syndrome , including central obesity , hyperinsulinemia , glucose intolerance and diabetes [1] usually type 2 , [2] dyslipidemia , hypertension , [1] and early endpoints of atherosclerosis . [2] It can also result in hepatic steatosis . [3] FPLD results from mutations in LMNA gene , which is the gene that encodes nuclear lamins A and C. [1] The condition is named after Scottish doctor Matthew Dunnigan, who pioneered early study into the disorder. [4] See also [ edit ] Familial partial lipodystrophy References [ edit ] ^ a b c Hegele, RA (December 2000). "Familial partial lipodystrophy: A monogenic form of the insulin resistance syndrome". Molecular Genetics and Metabolism . 71 (4): 539–44. doi : 10.1006/mgme.2000.3092 . PMID 11136544 . ^ a b Hegele, RA (September 2000). "Insulin resistance in human partial lipodystrophy".
- Familial Partial Lipodystrophy, Dunnigan Type Orphanet
  
  A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis. Epidemiology Familial partial lipodystrophy, Dunnigan type (FPLD2) is the most frequent form of familial partial lipodystrophy (FPLD) for which the prevalence is estimated at less than 1/100,000 in Europe; although, this is likely an underestimate. Clinical description Onset of lipodystrophy usually occurs at or around puberty, with regional loss of subcutaneous adipose tissue from the limbs, buttocks and trunk, followed by a progressive fat accumulation on the face, neck and axillary regions giving patients a cushingoid appearance. Females often have a more severe phenotype than males. An increased skeletal muscle volume and mass is also noted. Prominent veins (due to lipoatrophy) are noted in the limbs. Metabolic complications appear progressively in adolescence or in adulthood and include insulin resistance, diabetes, hepatic steatosis, acanthosis nigricans, high blood pressure, and premature atherosclerosis with an increased risk of coronary heart disease.
- Familial Partial Lipodystrophy Type 2 Gard
  
  Familial partial lipodystrophy type 2 (FPLD2) is a rare, genetic disorder that affects the amount and distribution of fat (adipose tissue) in the body. Symptoms typically develop around puberty, after having normal adipose tissue in childhood. FPLD2 causes a loss of adipose tissue from the limbs, torso, buttocks and hips, while causing a buildup of adipose tissue in the face, neck, and upper back. It may also cause increased musculature. Some people with FPLD2 have areas of dark, thick skin (acanthosis nigricans), and females may have excessive hairiness ( hirsutism ) and menstrual abnormalities. Metabolic abnormalities develop in adolescence or adulthood, leading to signs and symptoms that may include insulin resistance , dyslipidemia , diabetes, pancreatitis (or recurrent acute pancreatitis), liver steatosis , atherosclerosis, and an increased risk of heart disease.
Thyroid Nodule Wikipedia

Ultrasound waves are focused and produce heat enabling to destroy thyroid nodules. [28] Focused ultrasounds have been used to treat other benign tumors, such as breast fibroadenomas and fibroid disease in the uterus. [ citation needed ] Treatment [ edit ] Levothyroxine (T4) is a prohormone that peripheral tissues convert to the primary active thyroid hormone, triiodothyronine (T3).

DICER1, PTEN, PTCH1, BRAF, TRPM3, CCDC6, TSHR, TG, RET, TAS2R38, APC, F9, CALCA, LGALS3, ACR, TPO, SMUG1, SLC5A5, KRAS, IGF1, PPARG, NRAS, HT, ECM1, TGFB1, NCOA4, HMGA2, TERT, LOC110806263, CXCR6, TMPRSS4, ORI6, NKX2-1, ALPI, ALB, PTGS2, ALPP, PAX8, NTRK1, CD47, MMP2, GDF15, IAPP, HRAS, CD274, TFF3, FOLH1, SLCO6A1, MAGT1, GSTK1, MIRLET7G, GSC, MIR4306, XRCC1, VEGFA, UROD, GADL1, TTF1, ACKR3, MIR146B, MIR145, TPM3, TP53, MTCO2P12, MIR183, MIR197, ALK, TFPI, DLG1-AS1, GRK2, KIDINS220, MIR21, SHC3, ADRA1A, FLVCR1, MIR221, AZIN2, MIR95, QPRT, ADRA2B, RASSF1, PPP1R13L, MIR199A1, NIBAN1, MIR196B, GSTO1, LPAR2, MIR485, FOSL1, MIR199A2, CCND1, STRN, ERBB2, SFN, GNB3, GHR, GH1, GFRA1, GDF1, GATA3, FOXE1, FAP, APP, ETV6, ETS1, EIF1AX, GSTM1, EGFR, EDNRA, DPP4, CYP1A1, CLU, CHGA, CEACAM5, TNFSF8, TNFRSF8, AR, BRS3, ARRB2, GPR42, GSTP1, SSTR4, NCAM1, SSTR2, SST, HLTF, SHBG, BMP1, PTPN11, PTN, PTH, ADCY6, ANGPT2, PPP3R1, SLC26A4, COX2, GSTT1, MT1A, BIRC5, LEP, KRT19, KIT, KCNJ6, ITGA6, IL6R, IL6, IGFBP3, HSD11B2, HMGA1, RNH1
- Thyroid Nodules Mayo_clinic
  
  Overview Thyroid nodules are solid or fluid-filled lumps that form within your thyroid, a small gland located at the base of your neck, just above your breastbone. Thyroid gland The thyroid gland is located at the base of the neck, just below the Adam's apple. Most thyroid nodules aren't serious and don't cause symptoms. Only a small percentage of thyroid nodules are cancerous. You often won't know you have a thyroid nodule until your doctor discovers it during a routine medical exam. Or your doctor may uncover it during a scan that was done for another health reason.
Bruise Wikipedia

Philadelphia, Pennsylvania. 2017-03-28. p. 101. ISBN 9780323353175 . OCLC 960844656 .
Rheumatoid Nodule Wikipedia

. ^ a b "Rheumatoid nodules: Symptoms, causes, and pictures" . www.medicalnewstoday.com . 2017-10-28 . Retrieved 2020-07-31 . ^ a b Sayah A, English JC (August 2005).

HLA-DRB1, IL1B, MMP3, RBM45, MMP12, PDCD1LG2, TLR9, CD274, SMUG1, VCAM1, TNF, SLC11A1, SELE, MTR, IL1A, IL1RN, IFNG, MMP1, MBL2, IL18, IL17A, IL15, IL10, IL4R, IL2, MMP7
- Rheumatoid Nodulosis Omim
  
  Clinical Features Brown et al. (1979) described longstanding, multiple, subcutaneous nodules with the histopathologic characteristics of rheumatoid nodules, in 2 males without clinical or serologic evidence of rheumatic disease. No abnormality of leukocyte function was found. One patient had a positive family history with 7 persons (5 males) in 4 sibships of 3 generations affected. The nodules were located on the elbows, hands, heels and shin. Seemingly, only the proband was studied in the multiply affected family. Joints - No clinical evidence of rheumatoid arthritis Limbs - Longstanding, multiple, subcutaneous nodules Lab - Histopathology characteristic of rheumatoid nodules - No serologic evidence of rheumatic disease - No abnormality of leukocyte function Inheritance - Autosomal dominant ▲ Close
- Rheumatoid Nodulosis Wikipedia
  
  Rheumatoid nodulosis Other names Accelerated rheumatoid nodulosis [1] Specialty Dermatology Rheumatoid nodulosis is a cutaneous condition associated with rheumatoid arthritis , characterized by the appearance of multiple nodules, most often on the hands. [1] See also [ edit ] Rheumatoid neutrophilic dermatitis Rheumatoid nodule List of cutaneous conditions References [ edit ] ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set . St. Louis: Mosby. ISBN 978-1-4160-2999-1 . This dermatology article is a stub . You can help Wikipedia by expanding it . v t e
Contact Dermatitis Wikipedia

. ^ a b "Balsam of Peru contact allergy" . DermNet NZ. 2013-12-28 . Retrieved 2014-04-17 . ^ "Contact Dermatitis and Related Conditions" .

FLG, CLDN1, LCN2, HMOX1, ING1, MMP10, MMP8, KRT10, KRT4, KRT2, IL18, NRG1, AHR, KIF2C, SLC7A11, IGFBP6, IGFBP2, HSP90AA1, HSPB1, NQO2, CCL27, OSM, PRDX6, TNFSF9, PIR, VEGFA, TXNRD1, TXN, TPSAB1, TLR4, SOD3, PI3, SOD1, SERPINB4, SERPINB3, SAA1, S100A8, PSMD12, HDAC4, HLA-DMA, CXCL14, DDIT3, MLANA, AKR1B10, CRHR1, CD44, CCN2, UGT1A1, CTSS, CYP1A1, CYP1B1, AKR1C2, STOML2, DEFB1, NQO1, UGT1A6, DUSP1, FABP4, GCLC, CASP8, GSTP1, BCL2, GSS, GSR, CXCR3, CCR1, CD86, GLB1, G6PD, FTH1, TLR8, TNF, IL1B, MRGPRX2, IL25, CD70, IL10, CCL2, IL1A, IFNG, MYDGF, IL23A, AGO2, TSLP, IL37, IL31, VSX1, GRK2, TRPA1, CCN6, ALOX15, CASP1, CD27, CD58, CCR4, CSF2, CTSB, SLC26A3, EPHB2, FN1, HSD17B10, HLA-C, HPD, IL4, IL6, IL9, OPRM1, MAPK1, TRBV20OR9-2, MIR150
- Contact Dermatitis Mayo_clinic
  
  Overview Contact dermatitis is an itchy rash caused by direct contact with a substance or an allergic reaction to it. The rash isn't contagious, but it can be very uncomfortable. Many substances can cause this reaction, such as cosmetics, fragrances, jewelry and plants. The rash often shows up within days of exposure. To treat contact dermatitis successfully, you need to identify and avoid the cause of your reaction. If you avoid the substance causing the reaction, the rash often clears up in 2 to 4 weeks. You can try soothing your skin with a cool, wet cloth and other self-care steps.
Mandibuloacral Dysplasia With Type A Lipodystrophy Omim

In 1 patient with an apparently typical HGPS phenotype who was 28 years old at the time that DNA was obtained, Cao and Hegele (2003) identified compound heterozygosity for 2 missense mutations in the LMNA gene (150330.0025 and 150330.0026); this patient was later determined (Brown, 2004) to have mandibuloacral dysplasia.

LMNA, MMP9, ZMPSTE24, AMPD1, RET, SUN2, SIRT1, AGPAT2, CCDC6, TAS2R38, PTCH1, BGLAP, PPARG, POLD1, MXD1, F9, LMNB2
- Mandibuloacral Dysplasia Wikipedia
  
  Mandibuloacral dysplasia Other names MAD [1] Mandibuloacral dysplasia ( MAD ) is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated and club-shaped terminal phalanges, acroosteolysis , atrophy of the skin of the hands and feet, and typical facial changes. [2] : 576 Contents 1 Types 2 See also 3 References 4 External links Types [ edit ] Type OMIM Gene Locus MADA 248370 LMNA [3] 1q21.2 MADB 608612 ZMPSTE24 [4] 1p34 See also [ edit ] Hereditary sclerosing poikiloderma Skin lesion References [ edit ] ^ "Mandibuloacral dysplasia" . Genetic and Rare Diseases . NIH . Retrieved 19 March 2019 . ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. ISBN 0-7216-2921-0 . ^ Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M (2012). "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome" .
- Mandibuloacral Dysplasia Orphanet
  
  Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.
Glycine Encephalopathy Omim

Kure et al. (1999) performed prenatal diagnosis for NKH by enzymatic analysis of chorionic villus samples in 28 families and by DNA analysis in 2 families.

GLDC, AMT, GCSH, SLC6A9, GLRX5, IRF6, GLYCTK, OCA2, LIAS, GCLC, UGCG, BOLA3, LIPT1, B3GAT1, PTPRC, SURF1, CD19, MAPK8, MAPK3, MGAT1, PSS
- Neonatal Glycine Encephalopathy Orphanet
  
  Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay. Epidemiology The prevalence of neonatal glycine encephalopathy is not known. Clinical description Patients develop disease manifestations within the first hours or days of life. Symptoms include progressive lethargy, hypotonia, myoclonic jerks leading to apnea. In the absence of intubation and ventilation, apnea may be fatal. With supportive measures, most patients regain spontaneous respiration and some show improvement in alertness over time.
- Glycine Encephalopathy Orphanet
  
  Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity. Epidemiology In Finland, an incidence at birth of 1/55,000 is reported and in British Columbia, Canada, 1/63,000, with a calculated carrier rate of 1/125. Clinical description Three forms of GE have been recognized based on the age of onset: neonatal, infantile and atypical glycine encephalopathy (see these terms). Most patients have the life-threatening neonatal form and present mild to severe disease manifestations starting within a few days of birth including lethargy or even coma, hypotonia, hiccups, myoclonic jerks, and breathing/swallowing disorders, with subsequent intellectual deficit, spasticity and intractable seizures. A smaller proportion of patients show developmental delay and generally mild seizures in the infantile period, while others do not develop symptoms until late infancy or adulthood.
- Nonketotic Hyperglycinemia Gene_reviews
  
  Summary Clinical characteristics. Nonketotic hyperglycinemia (NKH) is the inborn error of glycine metabolism defined by deficient activity of the glycine cleavage enzyme system (GCS), which results in accumulation of large quantities of glycine in all body tissues including the brain. Based on ultimate outcome NKH is categorized into severe NKH (no developmental progress and intractable epilepsy) and attenuated NKH (variable developmental progress and treatable or no epilepsy). The majority of children with NKH have onset in the neonatal period manifest as progressive lethargy evolving into profound coma and marked hypotonia; 85% have severe NKH and 15% attenuated NKH. Those with onset between two weeks and three months typically present with hypotonia; 50% have severe NKH and 50% attenuated NKH. Those with onset after age three months have attenuated NKH. Severe versus attenuated NKH is consistent within families, but the degree of developmental progress in those with attenuated NKH can vary.
- Atypical Glycine Encephalopathy Orphanet
  
  A rare form of glycine encephalopathy presenting disease onset or clinical manifestations that differ from neonatal or infantile glycine encephalopathy. Epidemiology The prevalence of atypical glycine encephalopathy is not known. Approximately 20 cases have been reported to date. Clinical description Symptoms are mostly non-specific and are not similar to the severe neurological symptoms observed in neonatal and infantile GE (see these terms). Some patients have milder disease with onset from late infancy to adulthood, while others have rapidly progressive severe disease often of late onset. It also includes patients with transient hyperglycinemia, whose symptoms in neonatal period resemble those of neonatal form.
- Nonketotic Hyperglycinemia Medlineplus
  
  Nonketotic hyperglycinemia is a disorder characterized by abnormally high levels of a molecule called glycine in the body (hyperglycinemia). The excess glycine builds up in tissues and organs, particularly the brain. Affected individuals have serious neurological problems. Nonketotic hyperglycinemia has two forms, the severe form and the attenuated form. Both forms usually begin shortly after birth, although in some cases, signs and symptoms can begin in the first few months of life. Only the attenuated form begins later in infancy. The forms are distinguished by the seriousness of the signs and symptoms.
- Infantile Glycine Encephalopathy Orphanet
  
  Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures. Epidemiology The prevalence of infantile glycine encephalopathy is not known. Infantile cases are less frequent than the classical neonatal form of GE (neonatal GE; see this term). Clinical description Patients present with infantile-onset seizures and variable psychomotor delay after initially normal development, and often have a relatively long history of hypotonia. Seizures of any type are found in less than half of patients and some develop choreoathetosis.
- Glycine Encephalopathy Gard
  
  Glycine encephalopathy is an inherited metabolic disease characterized by abnormally high levels of an amino acid called glycine. Glycine is a chemical messenger that transmits signals in the brain. According to the symptoms the disease onset, glycine encephalopathy may be divided in: Classical neonatal form (most common): Symptoms start within a few days of life and may include poor feeding, lack of energy (lethargy), weak muscle tone (hypotonia ), hiccups, breathing problems, seizures , hiccups, and coma. Infantile form: Symptoms start only after 6 months of age, as intellectual disability, abnormal movements, and behavioral problems Late onset: Symptoms include tightness or stiffness of the legs or arms (spastic diplegia), and vision loss due to a damage of the eye nerve (optic atrophy). Transient form: Symptoms are similar to the classic form, but glycine levels decrease and the symptoms may improve within time. Glycine encephalopathy is caused by changes (mutations) in the AMT , GLDC or GCSH genes which result in a deficiency of the enzyme that break-up the glycine.
Pancreatitis, Hereditary Omim

In 218 patients the diagnosis appeared to be highly probable and in 28 patients it was thought to be less certain.

SPINK1, PRSS1, CTRC, CFTR, PRSS2, CPA1, CASR, HP, STAT6, OR10A4, NAB2, MSR1, ELAC2, TP53, PCAP, RNASEL, GAST, CBX4, NGFR, KLK3, CD274, LGR5, NPEPPS, TNF, PIK3CA, IL10, PROS1, CTSB, CRP, PIK3CB, PSAT1, PRSS3, PLAG1, BRCA2, PIK3CG, CDKN2A, COX2, PIK3CD, VEGFA, UBB, TSC2, SERPINA1, TGFB1, PTGS2, TLR4, SYP, SRD5A2, S100A8, SOX9, S100A9, MAPK3, ABL2, CLDN1, CRISPLD2, PINX1, SPHK2, SMURF1, EHMT1, CAMKMT, APOL3, PANX3, ADIPOQ, PRSS58, MIR204, HPC3, ZGLP1, MIR4270, MTCO2P12, PGPEP1, DLL4, FOXP3, MBL3P, BHLHE22, AMACR, HEY1, CELA3B, LZTS1, NCOA2, HOXB13, DLC1, HDAC6, MAGEC1, PECAM1, HDAC9, HPCX, PGR, MUC5AC, PDCD1, DSPP, CDKN1C, CP, CPB2, CLDN7, CYP1B1, CYP17A1, EEF1B2P2, CDK2, EPHB4, ERBB2, ERCC1, F13A1, FAP, FCGR2B, CDKN1B, CDH1, GCG, BDNF, APC, BIRC2, APP, RERE, CCND1, BCL2, BGN, CD40, BRAF, CALM1, CALM2, CALM3, CCKBR, KRIT1, FOXD1, GDNF, PCNA, MLH1, MAP2, MBL2, MGMT, MGST1, CD99, MIF, MMP9, LCN2, MPO, MUC1, ABO, MUC6, NGF, NOTCH1, EPCAM, KRT19, GLP1R, HDGF, GPI, GPT, GSTM1, GSTM3, GSTT1, HDAC1, HIF1A, IRF1, HLA-DQA1, HLA-DQB1, IL1A, IL1B, IL4, CXCL8, H3P10
- Hereditary Pancreatitis Gard
  
  Hereditary pancreatitis causes multiple episodes of inflammation of the pancreas ( pancreatitis ), an important digestive organ. Symptoms usually begin in childhood and may last a few days or longer. Signs and symptoms may include stomach pain, nausea, or vomiting. People with hereditary pancreatitis develop chronic pancreatitis, a constantly inflamed pancreas. This leads to symptoms which may include fatty stools, weight loss, and poor absorption of nutrients from food. Adults with hereditary pancreatitis are at an increased risk for type 1 diabetes and pancreatic cancer.
- Hereditary Chronic Pancreatitis Orphanet
  
  A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. This rare inherited form of pancreatitis leads to irreversible damage to both exocrine and endocrine components of the pancreas. Epidemiology The estimated prevalence of hereditary chronic pancreatitis (HCP) is approximately 1/300,000 people in Europe (1/800,000 in Germany, approximately 1/333,335 in France and approximately 1/175,440 in Denmark). Clinical description Onset of HCP is typically early in life, during childhood and adolescence. The clinical presentation is highly variable and includes chronic or intermittent mild to severe abdominal pain associated with exocrine pancreatic insufficiency, leading to maldigestion and/or pancreatic endocrine insufficiency (glucose intolerance progressing to diabetes mellitus type 3c) in some cases.
- Hereditary Pancreatitis Wikipedia
  
  Hereditary pancreatitis This condition is inherited in an autosomal dominant manner Hereditary pancreatitis ( HP ) is an inflammation of the pancreas due to genetic causes. It was first described in 1952 by Comfort and Steinberg [1] but it was not until 1996 that Whitcomb et al [2] isolated the first responsible mutation in the trypsinogen gene ( PRSS1 ) on the long arm of chromosome seven ( 7q35 ). The term "hereditary pancreatitis" is used when a genetic biomarker is identified, and "familial pancreatitis" otherwise. [3] Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Management 5 Prognosis 6 References 7 External links Presentation [ edit ] HP is characterised by attacks of epigastric pain , which are often associated with nausea and vomiting. Symptoms may start shortly after birth but onset varies periodically, with some patients not exhibiting symptoms until adulthood. There is usually progression to chronic pancreatitis with endocrine and exocrine failure and a mortally increased risk of pancreatic cancer .
- Hereditary Pancreatitis Medlineplus
  
  Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis). The pancreas produces enzymes that help digest food, and it also produces insulin , a hormone that controls blood sugar levels in the body. Episodes of pancreatitis can lead to permanent tissue damage and loss of pancreatic function. Signs and symptoms of this condition usually begin in late childhood with an episode of acute pancreatitis. A sudden (acute) attack can cause abdominal pain, fever, nausea, or vomiting.
Alpha-Thalassemia/mental Retardation Syndrome, X-Linked Omim

Wada et al. (2005) found skewed X-inactivation patterns (greater than 90:10) in 6 of 7 unaffected Japanese female ATR-X carriers; the 1 carrier with non-skewed X inactivation (72:28) demonstrated moderate mental retardation.

ATRX, DAXX, ATR, IDH1, TP53, MGMT, SMARCA4, SMARCA2, TERT, SMARCA1, EGFR, MED12, MECP2, TERC, TH, ALK, PHOX2B, SRY, OLIG2, SIGMAR1, ARHGAP26, CIC, CD274, KDM3A, MAGT1, MBD2, PML, PTEN, MRE11, MEN1, IFNB1, IDH2, HIF1A, H3-3B, H3-3A, GFAP, MTOR, DSC3, CHGA, CDX2, CD34, LOC110806263
- Alpha Thalassemia X-Linked Intellectual Disability Syndrome Medlineplus
  
  Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males. Males with alpha thalassemia X-linked intellectual disability syndrome have intellectual disability and delayed development. Their speech is significantly delayed, and most never speak or sign more than a few words. Most affected children have weak muscle tone (hypotonia), which delays motor skills such as sitting, standing, and walking. Some people with this disorder are never able to walk independently. Almost everyone with alpha thalassemia X-linked intellectual disability syndrome has distinctive facial features, including widely spaced eyes, a small nose with upturned nostrils, and low-set ears.
- Alpha-Thalassemia X-Linked Intellectual Disability Syndrome Gene_reviews
  
  Summary Clinical characteristics. Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID). Craniofacial abnormalities include small head circumference, telecanthus or widely spaced eyes, short triangular nose, tented upper lip, and thick or everted lower lip with coarsening of the facial features over time. While all affected individuals have a normal 46,XY karyotype, genital anomalies comprise a range from hypospadias and undescended testicles, to severe hypospadias and ambiguous genitalia, to normal-appearing female external genitalia. Alpha-thalassemia, observed in about 75% of affected individuals, is mild and typically does not require treatment. Osteosarcoma has been reported in a few males with germline pathogenic variants.
- Alpha-Thalassemia Mental Retardation Syndrome Wikipedia
  
  Alpha-thalassemia mental retardation syndrome Other names ATR-X syndrome Child of 8 yrs with the characteristic facial features of ATR-X syndrome. Note the upswept frontal hair line, hypertelorism, epicanthic folds, flat nasal bridge, small triangular upturned nose, tented upper lip, everted lower lip and hypotonic facies. Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental retardation, nondeletion type or ATR-X syndrome , [1] is an X-linked recessive condition associated with a mutation in the ATRX gene. [2] Males with this condition tend to be moderately intellectually disabled and have physical characteristics including coarse facial features , microcephaly (small head size), hypertelorism (widely spaced eyes), a depressed nasal bridge, a tented upper lip and an everted lower lip. [3] Mild or moderate anemia , associated with alpha-thalassemia , is part of the condition. [4] Females with this mutated gene have no specific signs or features, but if they do, they may demonstrate skewed X chromosome inactivation . Contents 1 Epigenetics 2 Diagnosis 3 References 4 Further reading 5 External links Epigenetics [ edit ] "The role of ATRX as a regulator of heterochromatin dynamics raises the possibility that mutations in ATRX may lead to downstream transcriptional effects across the complex of genes or repetitive regions involved in the global context of the disorder, in addition to explaining phenotypical differences in these patients. For example, ATRX mutations affect the expression of alpha-globin gene cluster , causing alpha-thalassemia". [5] ATRX interacts with the transcription co-factor DAXX and the alpha-globin gene cluster. [5] [6] Together they are all responsible for depositing the histone H3.3 at telomeric and pericentromeric regions.
- Alpha-Thalassemia X-Linked Intellectual Disability Syndrome Gard
  
  Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an x-linked way. Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition.
- Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome Orphanet
  
  X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. Epidemiology So far, 168 patients have been reported. Clinical description Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia.