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Gallbladder Disease 1 Omim

Another woman developed biliary pain, cholesterol gallstones, and sludge in the gallbladder at age 28 years. UDCA treatment was effective.

ABCB4, ABCB11, ABCC2, SLC4A2, ABCG8
- Low Phospholipid-Associated Cholelithiasis Orphanet
  
  Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years.
15q13.3 Microdeletion Gene_reviews

Accounting for ascertainment, epilepsy/seizures are present in 28% of individuals [Lowther et al 2015].

CHRNA7, KLF13, OTUD7A
- 15q13.3 Microdeletion Medlineplus
  
  15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. However, some people with a 15q13.3 microdeletion do not appear to have any associated features. About half of all people with a 15q13.3 microdeletion have learning difficulties or intellectual disability, which is usually mild or moderate.
- 15q13.3 Microdeletion Syndrome Gard
  
  15q13.3 microdeletion syndrome is a genetic disorder caused by a deletion of several genes on chromosome 15 . When a syndrome is caused by the deletion of several genes, it is also known as a microdeletion syndrome or a contiguous gene deletion syndrome. Individuals with 15q13.3 microdeletion syndrome may have very different signs and symptoms from other affected individuals (even within the same family), or no symptoms at all. Features of the condition may include mild to moderate intellectual disabilities, learning delays, or normal intelligence; autism spectrum disorders; epilepsy (recurring seizures); and mental illness (such as schizophrenia or bipolar disorder). Various dysmorphic (abnormally formed) features have been reported, but there are no consistent physical features among individuals who have the condition. 15q13.3 microdeletion syndrome is caused by a deletion on the long arm of chromosome 15 that spans at least 7 genes and usually includes the CHRNA7 gene.It can be inherited in an autosomal dominant manner with reduced penetrance, or can occur as a new (de novo) deletion.
- Chromosome 15q13.3 Deletion Syndrome Omim
  
  A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome (chr15: 28.7-30.3 Mb, NCBI36). The 15q13.3 deletion is a recurrent 1.53-Mb deletion that resides between breakpoints BP4 and BP5 and includes 7 protein-coding genes. Specific genes implicated in the phenotype include CHRNA7 (118511) and OTUD7A (612024), both of which reside within the critical region. Most patients have heterozygous deletions, but some have homozygous deletions, which are associated with a more severe phenotype. See also chromosome 15q11-q13 duplication syndrome (608636), which has been associated with overlapping features.
- 15q13.3 Microdeletion Syndrome Orphanet
  
  15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features. Epidemiology Its prevalence is unknown; nearly 150 cases have been reported, including a subset of healthy relatives of affected individuals. Males are more likely to be symptomatic. Clinical description The syndrome manifests in childhood or later in life. Patients present with developmental delay, mainly in speech acquisition, cognitive impairment in about half of the cases (usually mild, sometimes moderate to severe), idiopathic generalized epilepsy (IGE, including childhood or juvenile absence epilepsy, juvenile myoclonic epilepsy (see these terms) and epilepsies with generalized tonic-clonic seizures), neurobehavioral disorders of the autistic or psychotic spectrum (including impaired expressive language, poor eye contact, repetitive movements, hyperactivity, impulsive and/or aggressive behavior, and disturbed social interactions). Subtle dysmorphic features may be present (down-slanting palpebral fissures, prominent nasal tip, large ears, strabismus, clinodactyly of the 5th finger, pigmented naevi ).
Mayer-Rokitansky-Kuster-Hauser Syndrome Omim

Shokeir (1978) described 18 unrelated females, aged 15 to 28, with aplasia of the mullerian duct derivatives.
- Mayer-Rokitansky-Küster-Hauser Syndrome Type 1 Orphanet
  
  Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome (see this term), is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females. Epidemiology MRKH syndrome (including type 1 and type 2) has a worldwide prevalence of 1/4500 live female births. The rate of MRKH syndrome type 1 varies largely between different cohorts reported, therefore an accurate incidence of this type is not possible. Clinical description MRKH syndrome type 1 is most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper 2/3 of the vagina. Because of this, difficulties with sexual intercourse have been reported.
Hyper-Igd Syndrome Omim

Exclusion Studies Drenth et al. (1994) did linkage studies in 10 families with 19 members affected by hyper-IgD syndrome and 28 unaffected members. They used highly polymorphic markers surrounding the familial Mediterranean fever locus on 16p to test for a possible allelic relationship.

MVK, HMGCR, TNF, TNFRSF1A, NLRP3, IL1B, MEFV, IL1A, FDFT1, IL1RN, SAA1, NOD2
- Hyperimmunoglobulinemia D With Periodic Fever Orphanet
  
  A rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs). Epidemiology The prevalence is unknown but the estimated incidence is at around 200 patients worldwide. Clinical description The disease usually begins in the first year of life and consists of recurrent attacks of fever along with abdominal pain, vomiting and diarrhea. Joint involvement (arthralgias/arthritis), swollen lymph nodes, skin lesions, and headaches are also observed. Attacks usually last 3-7 days and recur every 2-8 weeks but can vary between patients.
- Mevalonate Kinase Deficiency Medlineplus
  
  Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often. Mevalonate kinase deficiency has additional signs and symptoms, and the severity depends on the type of the condition. There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA).
- Hyper-Igd Syndrome Gard
  
  Hyper IgD syndrome is the less severe form of a metabolic disorder known as mevalonate kinase deficiency . It is considered an auto-inflammatory disease, with recurrent episodic or chronic unexplained inflammation, characterized by periodic episodes of fever, and other symptoms such as joint pain, swollen lymph nodes, skin rash, headaches, and abdominal pain. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly from person to person. These attacks can occur spontaneously or be triggered by vaccinations, infections, and/or emotional or physical stress.
Distributive Shock Wikipedia

.), "Distributive Shock: Overview: Background" , Medscape Reference , Medscape , retrieved 2014-04-28 . ^ a b c d e f g h Elbers, Paul W.G.; Ince, Can (19 July 2006).

AGT, AGTR2, AVP, PGR-AS1
Occult Macular Dystrophy Omim

Davidson et al. (2013) sequenced the coding region and intron-exon boundaries of the RP1L1 gene in 28 probands with clinical and electrophysiologic findings of OCMD similar to those previously reported by Akahori et al. (2010).

RP1L1, PLXNA2, ERG
- Occult Macular Dystrophy Wikipedia
  
  Occult macular dystrophy Specialty Ophthalmology Occult macular dystrophy ( OMD ) is a rare inherited degradation of the retina , characterized by progressive loss of function in the most sensitive part of the central retina ( macula ), the location of the highest concentration of light-sensitive cells (photoreceptors) but presenting no visible abnormality. "Occult" refers to the degradation in the fundus being difficult to discern. [1] The disorder is called "dystrophy" instead of "degradation" to distinguish its genetic origin from other causes, such as age. OMD was first reported by Y. Miyake et al. in 1989. [2] [3] Contents 1 Symptoms 2 Etiology 2.1 Physiology 3 Diagnosis 3.1 Differential diagnosis 4 Prognosis 5 Future research 6 Prevalence 7 References Symptoms [ edit ] An Amsler grid, as seen by a person with normal vision. Symptoms entail a loss of visual acuity in both eyes, including darkened vision, ring scotoma (ring of blindness close to the center of vision), color blindness, and difficulty with bright lights. The scotoma may cause text slightly away from the center of vision to disappear; the appearance would not be black (in early stages) but of the same color as the nearby background.
- Occult Macular Dystrophy Orphanet
  
  Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.
Branchiooculofacial Syndrome Omim

Lin et al. (1995) described 15 new cases of the BOF syndrome and reviewed previously reported cases (28 with typical and 5 with atypical manifestations) in detail.

TFAP2A, EYA1, SIX1, SIX5, TFAP2A-AS1, AP2A1, IRF6, GRHL3, KCTD1
- Branchiooculofacial Syndrome Gene_reviews
  
  Summary Clinical characteristics. The branchiooculofacial syndrome (BOFS) is characterized by: branchial (cervical or infra- or supra-auricular) skin defects that range from barely perceptible thin skin or hair patch to erythematous "hemangiomatous" lesions to large weeping erosions; ocular anomalies that can include microphthalmia, anophthalmia, coloboma, and nasolacrimal duct stenosis/atresia; and facial anomalies that can include ocular hypertelorism or telecanthus, broad nasal tip, upslanted palpebral fissures, cleft lip or prominent philtral pillars that give the appearance of a repaired cleft lip (formerly called "pseudocleft lip") with or without cleft palate, upper lip pits, and lower facial weakness (asymmetric crying face or partial 7th cranial nerve weakness). Malformed and prominent pinnae and hearing loss from inner ear and/or petrous bone anomalies are common. Intellect is usually normal. Diagnosis/testing. The diagnosis is based on clinical findings and confirmed with the identification of a heterozygous pathogenic variant in TFAP2A . Management. Treatment of manifestations: In general, children with BOFS should be managed by a multispecialty team including, for example, craniofacial specialists, plastic surgeons, otolaryngologists, and speech therapists. Small, linear or superficial branchial skin defects may heal spontaneously; however, some require surgical intervention.
- Branchio-Oculo-Facial Syndrome Medlineplus
  
  Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. "Branchio-" refers to the branchial arches, which are structures in the developing embryo that give rise to tissues in the face and neck. In people with branchio-oculo-facial syndrome, the first and second branchial arches do not develop properly, leading to abnormal patches of skin, typically on the neck or near the ears. These patches can be unusually thin, hairy, or red and densely packed with blood vessels (hemangiomatous).
- Branchiooculofacial Syndrome Gard
  
  Branchiooculo facial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities, and distinctive facial features. Among the reported cases thus far, the symptoms may vary from mild to severe. BOFS is caused by mutations in the TFAP2A gene and inherited as an autosomal dominant trait.
- Branchio-Oculo-Facial Syndrome Orphanet
  
  Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth. Epidemiology About fifty cases have been reported so far. Clinical description Other reported malformations include pseudocleft of the upper lip (resembling a surgically repaired cleft or a fused cleft), malformed ears, conduction or sensorineural deafness, pre-auricular pits, lip pits, highly arched palate, dental anomalies, ocular anomalies (coloboma, microphthalmia), and subcutaneous cysts of the scalp. Premature greying of the hair occurs in affected adults. One patient had, in addition to the typical features of BOFS, partial agenesis of the cerebellar vermis, while two sibs with this syndrome also had orbital hemangiomatous cysts. Urologic examination may reveal kidney abnormalities (agenesis, cysts, hydronephrosis). Preaxial polydactyly and white forelock were described in two cases of BOFS.
- Branchio-Oculo-Facial Syndrome Wikipedia
  
  Branchio-oculo-facial syndrome Other names Hemangiomatous branchial clefts-lip pseudocleft syndrome Autosomal dominant is the manner of inheritance of this condition Branchio-oculo-facial syndrome (BOFS) [1] is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal dominant disorder that starts to affect a child's development before birth. [1] Symptoms of this condition include skin abnormalities on the neck, deformities of the ears and eyes, and other distinctive facial features such a cleft lip along with slow growth, mental retardation and premature graying of hair. [2] Contents 1 Signs and symptoms 2 Pathophysiology 3 Diagnosis 4 Management 5 Epidemiology 6 References 7 External links Signs and symptoms [ edit ] "Branchio" refers to the branchial arches , also known as the pharyngeal arches, of the affected individual. The branchial arches are structures in the developing embryo that give rise to certain tissues in the neck and facial area. In individuals affected by this condition, the branchial arches fail to develop properly. This leads to some of the physical conditions of this syndrome, which include abnormal patches of skin on the neck and face region and can be abnormally hairy, thin or red and with a high number of blood vessels. [ clarification needed ] "Oculo" refers to the eyes.
Aneurysm, Intracranial Berry, 1 Omim

In the parental generation, 11 men and 37 women were affected (including both SIA and PIA); in the consecutive generation, 28 men and 32 women were affected. There was a significant difference in sex ratio of affected family members when the generations were compared (P less than 0.02).

COL3A1, ELN, ENG, TGFBR3, ANGPTL6, ANIB1
- Familial Cerebral Saccular Aneurysm Orphanet
  
  A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid hemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms.
- Aneurysm, Intracranial Berry, 5 Omim
  
  Description Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006). For a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 (105800). Clinical Features Roos et al. (2004) reported a large consanguineous Dutch family in which 7 of 20 sibs had an intracranial aneurysm. Three had a subarachnoid hemorrhage (SAH) at ages 37, 42, and 45 years, respectively; 1 died with suspected SAH at age 36 years, and 3 were found to have asymptomatic cerebral aneurysms on imaging studies.
- Aneurysm, Intracranial Berry, 2 Omim
  
  Description Intracranial berry aneurysms are saccular outpouchings of the intracranial arteries, most commonly at arterial bifurcations, characterized by arterial wall remodeling. Most cases of ruptured intracranial berry aneurysms result in a subarachnoid hemorrhage, associated with high morbidity and mortality (summary by van der Voet et al., 2004). For a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 (105800). Mapping In a genomewide scan of 48 affected sib pairs from a Finnish population, Olson et al. (2002) identified a locus for intracranial aneurysms on chromosome 19q13, with a maximum multipoint lod score of 2.6 between markers D19S245 and D19S246. In a follow-up study with a total of 222 affected Finnish relative pairs, van der Voet et al. (2004) refined the ANIB2 locus to a 6.6-cM region on 19q13.3 between markers D19S545 and D19S246 (lod scores greater than 3.0).
Allergies In Children Wikipedia

CS1 maint: ref=harv ( link ) ^ Walker , p. 28. sfn error: no target: CITEREFWalker ( help ) ^ American Lung, Association (June 2001).
Geleophysic Dysplasia 1 Omim

Serial ultrasound scans, performed on 2 of the cases during pregnancy, failed to demonstrate short limbs until after 28 weeks of gestation. The facies and small hands with limitation of movement of interphalangeal joints were pictured.

FBN1, ADAMTSL2, LTBP3, SMAD2, TGFB1, EGF, PRDX1, PRRX1, ADAMTSL4, ADAMTS17
- Geleophysic Dysplasia Gene_reviews
  
  Summary Clinical characteristics. Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with ADAMTSL2- related geleophysic dysplasia. Diagnosis/testing. The clinical diagnosis of geleophysic dysplasia is based on clinical and radiographic findings. The molecular diagnosis is established in a proband who also has one of the following on molecular genetic testing: biallelic pathogenic variants in ADAMTSL2 or a heterozygous pathogenic variant in either FBN1 or LTBP3.
- Geleophysic Dysplasia 2 Omim
  
  A number sign (#) is used with this entry because of evidence that geleophysic dysplasia-2 (GPHYSD2) is caused by heterozygous mutation in exon 41 or 42 of the FBN1 gene (134797) on chromosome 15q21.1. Acromicric dysplasia (ACMICD; 102370) and the autosomal dominant form of Weill-Marchesani syndrome (608328) are allelic to geleophysic dysplasia-2 and share overlapping skeletal and joint features. For a general phenotypic description and discussion of genetic heterogeneity of geleophysic dysplasia, see 231050. Molecular Genetics In 19 patients with geleophysic dysplasia who were known to be negative for mutation in the ADAMTSL2 gene (612277), Le Goff et al. (2011) performed exome sequencing followed by candidate gene analysis and identified heterozygosity for 8 different mutations in the FBN1 gene (see, e.g., 134797.0055-134797.0058). Two of the mutations were also found in heterozygosity in patients with acromicric dysplasia, a disorder also characterized by short stature, short hands and feet, joint limitations, and skin thickening, but without cardiac involvement or early death.
- Geleophysic Dysplasia Orphanet
  
  A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy''). Epidemiology Fewer than 30 cases have been reported to date. Clinical description The characteristic facial appearance (''happy'' face) consists in a shortened nose, full cheeks, hypertelorism, long flat philtrum, and a thin upper lip. Additional clinical features include progressive cardiac valvular thickening often leading to an early death, contractions of the gastrocnemius muscle and Achilles tendon leading to tip toe walking, tracheal stenosis, bronchopulmonary insufficiency, and liver enlargement. Radiological manifestations include delayed bone age, cone-shaped epiphyses, shortened long tubular bones and ovoid vertebral bodies. Etiology Mutations have been found in the ADAMTSL2 and FBN1 genes which appear to induce microfibrillar network disorganization and enhanced TGF-beta signaling.
- Geleophysic Dysplasia 3 Omim
  
  A number sign (#) is used with this entry because of evidence that geleophysic dysplasia-3 (GPHYSD3) is caused by heterozygous mutation in the LTBP3 gene (602090) on chromosome 11q13. For a general phenotypic description and discussion of genetic heterogeneity of geleophysic dysplasia, see GPHYSD1 (231050). Clinical Features McInerney-Leo et al. (2016) studied a mother (SKDP-4.2) and 2 sons (SKDP-4.4 and SKDP-4.3) who had short stature, brachydactyly, restricted movements in the elbow and wrist joints, and dysmorphic facial features including round face, full cheeks, well-defined eyebrows, bulbous nose, anteverted nares, and thick lips. The mother underwent emergency tracheostomy after failed intubation for cesarean section; CT scan indicated probable preexisting subglottic stenosis. In addition, the younger son had a hoarse voice and subglottic stenosis, and echocardiogram at age 16 years showed mildly thickened mitral valve with mitral regurgitation, and possible pulmonary artery stenosis; however, these results were not confirmed on cardiac MRI.
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) Omim

The pathogenicity of these mutations was confirmed by reduced TK2 activity in muscle (28 to 37% of controls). In a family originally described by Tritschler et al. (1992) in which 3 sibs had myopathic mtDNA depletion syndrome, Mancuso et al. (2003) identified homozygosity for the T150M mutation.

TK2
- Mitochondrial Dna Depletion Syndrome, Myopathic Form Orphanet
  
  Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.
Ichthyosis Hystrix Wikipedia

The Open Dermatology Journal . 5 : 28–30. doi : 10.2174/1874372201105010028 .
- Ichthyosis Hystrix Gravior Omim
  
  Description Anton-Lamprecht (1978) stated that 4 genetic disorders of keratinization are known to have a structural defect of tonofibrils. (1) In the harlequin fetus (242500), an abnormal x-ray diffraction pattern of the horn material points to a cross-beta-protein structure instead of the normal alpha-protein structure of keratin. (2) Bullous ichthyosiform erythroderma (EHK; 113800) is characterized by an early formation of clumps and perinuclear shells due to an abnormal arrangement of tonofibrils. (3) In the Curth-Macklin form of ichthyosis hystrix (146590), concentric unbroken shells of abnormal tonofilaments form around the nucleus. (4) In ichthyosis hystrix gravior, only rudimentary tonofilaments are found with compensatory production of mucous granules. Goldsmith (1976) used the designation of epidermolytic hyperkeratosis for the condition that is called bullous congenital ichthyosiform erythroderma (BCIE) when generalized and ichthyosis hystrix when localized. Clinical Features Penrose and Stern (1958) stated that between 1731 and 1851, the Lambert family of Suffolk, England, had 11 members in 4 generations with ichthyosis hystrix gravior. It was the Lambert pedigree from which the term 'porcupine man' arose. In their review, Penrose and Stern (1958) showed that females in this family were also affected.
Spastic Paraplegia 7 Gene_reviews

., Krabbe disease, arylsulfatase A deficiency [metachromatic leukodystrophy]) ABCD1 GALC ARSA XL AR Paraplegia neuropathy Dementia On MRI: leukodystrophy, adrenal dysfunction, long-chain fatty acid accumulation Spinocerebellar ataxia type 28 AFG3L2 AD Paraplegia Ataxia Rare dystonia or parkinsonism Dopa-responsive dystonia GCH1 AD Brisk reflexes Spasticity Extensor plantar responses Young-onset dystonia parkinsonism responsive to levodopa Diurnal variation Amyotrophic lateral sclerosis See footnote 1 AD AR XL Spasticity Muscle atrophy, weakness & fasciculations Primary lateral sclerosis 2 Unknown N/A Spasticity Survival 15-20 years Arginase deficiency ARG1 AR Spasticity Epileptic seizures Severe mental retardation Elevated plasma arginine Hyperammonemia Structural abnormalities of the brain or spinal cord N/A N/A Gait difficulties On MRI: spine abnormalities Vitamin B 12 deficiency N/A N/A Unsteady gait Subacute combined degeneration Improvement after vitamin B 12 supplementation Primary progressive multiple sclerosis N/A N/A Spasticity MRI white matter changes Oligoclonal IgG bands Elevated IgG index Progressive external ophthalmoplegia Various AR AD Eyelid ptosis External ophthalmoplegia Proximal myopathy No pyramidal signs Tropical spastic paraplegia (caused by HTLV1 infection) N/A N/A Paraplegia HTLV-1 serology Optic neuropathy KLC2 3 MFN2 4 AR AD Pale optic disks No pyramidal signs AD = autosomal dominant; AR = autosomal recessive; DiffDx = differential diagnosis; MOI = mode of inheritance; N/A = not applicable; XL = X-linked 1.

SPG7, AFG3L2, FXN, FIG4, TBK1
Isodicentric 15 Wikipedia

Incidence at birth appears to be 1 in 30,000 [13] with a sex ratio of almost 1:1; however, since dysmorphic features are absent or subtle and major malformations are rare, chromosome analysis may not be thought to be indicated, and some individuals, particularly in the older age groups, probably remain undiagnosed. [13] There are organizations for families with idic(15) children that offer extensive information and support. [3] Research [ edit ] Spontaneous EEG recordings (right) from a 28-month-old child with idic(15) show diffuse beta frequency oscillations that represent an EEG signature of idic(15) and Dup15q. [14] Patients with idic(15) and int dup(15) often feature a distinctive electroencephalography (EEG) signature or biomarker in the form of high amplitude spontaneous beta frequency (12–30 Hz) oscillations.

GABRB3, GABRA5, GABRG3, TYRP1, TBPL1, PEG10, DLGAP2, COPS2, EDIL3, PTGES3, ZMYND11, TMED10, PRDM9, IGHV1-12, CDK5R1, DMRT3, MCPH1, CDT1, TMED10P1, RTL1, IL1RL1, ADD2, UBE3A, MYCN, DMD, DMRT1, ETV6, SLC29A2, HTC2, MSH3, NEFM, CENPB, PLP1, PRNP, RRAS, SETMAR, SNRPN, TPT1, H3P17
- Inverted Duplicated Chromosome 15 Syndrome Orphanet
  
  A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures. Epidemiology Prevalence at birth is estimated at 1 in 30,000 but may be an underestimate. In patients with developmental concerns (developmental delay, intellectual disability, or autism spectrum disorder) or multiple congenital anomalies, the prevalence of partial tetrasomy of chromosome 15 is estimated to range between 1/253-584. There is an observed male predilection of 2:1. Clinical description Presentation is typically with neonatal hypotonia, feeding difficulties and gross motor delay. Global developmental delay is typical in early childhood with speech and language particularly affected.
Paget's Disease Of The Breast Wikipedia

If there is a palpable mass, it is 32% and 31% respectively, with adjuvant chemotherapy (40% and 35%). [18] Positive lymph-nodes have been positively associated with a palpable mass and affect the prognosis to be now just 28% survival after 10 years (vs 79% without palpable mass and without affected lymph-nodes). [18] Involvement of the lymph nodes does not directly cause any harm, but is merely an indicator of systemic spread. [19] Furthermore, patients with an identifiable associated underlying breast tumor have a survival rate of 38-40% at five years and a survival rate of 22-33% at 10 years.

OPTN, NUP205, DPYS, PML, SQSTM1, SLC25A43, DCSTAMP, PIGN, IL6, VCP, TNFRSF11A, ERBB2, KHDRBS1, VDR, GTF2H1, KRT7, NUP62, DCTN4, ESR1, AR, CEACAM5, RIN3, LPAR2, TNFSF11, FSIP2, NEURL1, BEST1, BIRC6, CASP8AP2, ARID2, ACKR3, CXCR6, ATF7, DKK1, TRIP6, KMT2C, ADRA1A, PTH, TP53, TAF12, BCL2, BGLAP, BRCA2, BRS3, CALCA, CASR, CEBPB, CSF2, DMD, EDNRA, EGF, FOS, GJA1, GPR42, FOXA1, IL3, IL6ST, KRT8, MUC1, NEU1, TNFRSF11B, PDB1, ADRA2B, SSTR4, TAF2, KRT8P3
Pervasive Developmental Disorder Wikipedia

"Autism spectrum disorders". Neuron . 28 (2): 355–63. doi : 10.1016/S0896-6273(00)00115-X .

MECP2, DRD4, MRTFB, ARSD, PTEN, OXTR, SHANK3, CNTNAP2, FMR1, SLC6A4, NRXN1, SHANK1, SHANK2, BDNF, CHD8, MET, SCN2A, MAOA, NLGN3, RBFOX1, RELN, CD38, VDR, HTR2A, ADNP, PRKN, FOXP1, FOXP2, PVALB, IMMP2L, IL1RAPL1, EN2, AVPR1A, CADPS2, PAFAH1B1, APOE, NLGN4X, HTC2, PAX6, GRIN2B, LRP1, OPRM1, NOS2, NOS1, MTHFR, S100B, MAPT, ACTB, ST8SIA2, SCN1A, SCN3A, NEXMIF, PTCHD1, ZNF804A, EBPL, KIRREL3, CMIP, ARID1B, MAGEL2, PHF21A, AUTS2, NCS1, ARHGEF9, TBR1, GPR37, YWHAE, UBE3A, TCF4, TBX1, SYN1, STX1A, SLC6A3, GRIK2, SLC19A1, ELK3, COMT, DRD3, DPYD, AVP, CACNA1C, CACNA1D, AKT1, CHD2, CYP2D6, GABRB3, NCOR1, CS, RAB11FIP5, NRXN3, IL37, ARHGEF3, BUB1, KMT5B, RMDN1, BST1, WWOX, OPN1SW, UGT1A1, CADM1, TAOK2, KIF1A, CC2D1A, SLC33A1, RPP25, FAM120C, RMDN3, SETD5, ELMOD1, SYBU, MBD5, CALB2, TSPAN12, NUAK1, CHRNA7, ABCB6, GPHN, SLU7, CLOCK, PTGES3, PPARGC1A, CHRNB2, KLF12, PARK7, FNDC3A, NLGN1, ZNF292, SLC35A3, POGZ, TBC1D9, AIM2, ADGRL3, DMXL2, NRXN2, CUX2, RERE, CHAT, SIRT1, CDH13, ATP10A, GLO1, AR, PRICKLE2, RAB39B, MACROD2, RPS10P2, RSS, PRICKLE1, LRFN5, RBFOX3, CBLN2, RMDN2, CNTN4, JAKMIP1, ABCA13, CBLL2, KCTD13, SYTL4, MIF-AS1, SH2D6, ADORA2A, SERINC2, ZNF713, LINC-PINT, MIR137, MIR140, PTLS, HOTAIR, FMR1-AS1, DEL11P13, IFNG-AS1, CDCA5, ALB, HERC2, TBL1XR1, APP, PCDH19, NUFIP2, NLGN2, PCDH10, TSHZ3, APC, ZNF462, KMT2C, LRRC4, LIN7B, TFB2M, MUL1, EHMT1, ALDH1A1, NAA15, APBA2, TTC25, ANK3, ELMOD3, SRRM4, TMEM185A, AMY1C, AMY1B, CAPS2, AMY1A, CNTNAP4, ALDH1A3, SEMA5A, PLA2G4C, CACNA1G, ESR1, FKBP5, FH, NR3C2, FGF2, NCAM1, NDUFS1, FGA, FABP3, NPY, NTS, NR4A2, EZH2, OTX1, P2RX7, MPDZ, ERCC2, CLN8, EPHA5, PEX7, ABCB1, PIK3CA, PIK3CB, PIK3CD, PIK3CG, SEPTIN5, PPARG, PPP2R5D, MAPK7, MDK, AFF2, FOLR1, FOLR2, GDNF, GRIN2A, GRM7, GRM8, GRP, H1-4, HTT, NRG1, HLA-DPA1, HLA-DPB1, HP, HRAS, AGFG1, GABRA4, FRA7A, HTR2C, HTR7, IFNG, CXCL8, IL10, IL17A, IRS1, ITGB3, JAK2, JARID2, LAMB1, LAMC2, PRL, PRODH, PSD, CYP11A1, CYP1A2, TCF20, TGFB1, TGM2, TNF, TRIO, TRPM2, TSC1, TSNAX, CUX1, UCP3, CTNND2, WT1, XPO1, XRCC4, CTNNB1, ZIC2, USP7, CSF2, GAN, MIA, KDM5C, TMEM187, MKNK1, CASK, SLC25A12, GFAP, CYP2C19, SPAST, EIF4E, SNCA, EEF1A2, RAC1, RFC1, RHCE, RHD, RIT2, RPS6, RPS6KA3, SCD, DRD2, DHCR7, SCN8A, SCT, CXCL12, SLC1A1, SLC2A3, SLC6A1, SLC6A2, DBI, CYP11B1, SLC6A8, ADCYAP1R1, SMARCA2, SMARCA4, SMARCB1, SMS, SNCB, LOC110806262
Membranous Glomerulonephritis Wikipedia

Pediatric Nephrology . 25 (8): 1419–28. doi : 10.1007/s00467-009-1324-5 .

C3, HLA-DQA1, ALB, HLA-DRB1, APOA1, GAA, NPHS1, LRP2, NQO1, CDKN1B, NPHS2, CFH, APOE, PTPRU, IL1B, MAP3K5, PLG, ABCA1, PTGER3, LRPAP1, SPARC, TBXAS1, MMP9, A2M, CD40, RHOA, C7, TSBP1, TSBP1-AS1, PPT2-EGFL8, SFTA2, THSD7A, PSORS1C1, PLB1, MUCL3, PLA2G1B, EGFL8, POU5F1, PRKCD, PPT2, IGAN1, RNF5, BTNL2, FOXP3, TCF19, PLA2R1, YWHAZ, EHMT2, PRRC2A, GPANK1, STK19, HLA-DQA2, SLC7A7, EHMT2-AS1, HLA-DMB, CYP21A2, HLA-B, ACTN4, MS4A1, KRT20, RBM45, MBL2, TRPC6, TNF, TGFB1, HLA-A, PLA2G2A, SERPINE1, XIST, F5, TNFRSF12A, MTHFR, HPSE, VEGFA, PLA2G6, SYNPO, POMC, IFNG, ACTB, AGT, MIR217, IL6, CST3, CNTN1, MIR130A, NES, TNFSF13B, CP, P3H4, MIR186, ANP32B, CIB1, C5AR1, MIR193A, CCR6, DNM1L, KEAP1, CCN2, PTER, USP2, POTEF, CTH, SNURF, PER2, CTLA4, HELT, MLYCD, CIC, CLCN5, CXCR5, KLHDC8B, NLRP3, CHRDL1, BRSK1, APOH, RABEP2, PDLIM2, CD69, NPNT, ACE2, PDGFC, CD5L, NEAT1, LINC01193, TNFSF11, CDC42BPG, TLR9, FIS1, CLU, MBL3P, KLF15, DIANPH, CABIN1, TNFSF13, HLA-DQB1, APOL1, MIF, FN1, PITX1, PECAM1, GABPA, NOTCH1, NOS3, NFE2L2, NEFH, MYC, MUC1, MTNR1A, MPO, GLS, GNAO1, UBL4A, SMAD7, STMN1, JAK3, CXCL10, IL4, IL2, HLA-DMA, IKBKB, IGHA1, IFI27, HSPG2, HRAS, HLA-DRB3, EXT2, PPBP, PRKCA, EXT1, FOSL1, CTSL, CYP3A5, ACE, HLA-DQB2, VCL, UCHL1, UBE2V1, TLR4, THY1, TGFB2, DNMT1, EGFR, TAP1, STAT4, EIF4A2, SNRPN, SMN2, SMN1, CXCL12, SDC2, CCL2, EIF4E, REN, EIF4G1, PSMB8, ENO1, PRKCB
Fecal Impaction Wikipedia

The American Journal of Emergency Medicine . 28 (1): 112.e1–2. doi : 10.1016/j.ajem.2009.02.024 .
Canine Influenza Wikipedia

The virus is an H3N2 variant that adapted from its avian influenza origins. [22] An outbreak in the US was first reported in the Chicago area during 2015. [23] Outbreaks were reported in several US states during the spring and summer of 2015 [23] and had been reported in 25 states by late 2015. [24] As of April 2015, the question of whether vaccination against the earlier strain offered protection had not been resolved. [25] The US Department of Agriculture granted conditional approval for a canine H3N2-protective vaccine in December 2015. [24] [21] [26] [27] In March 2016, researchers reported that this strain had infected cats and suggested that it may be transmitted between them. [28] No human risk [ edit ] The H3N2 virus as a stand-alone virus is deemed harmless to humans.
Diplegia Wikipedia

Dev Med Child Neurol . 43 (8): 516–28. doi : 10.1017/s0012162201000950 .

MTHFR, SOD1, TNF, CAVIN2