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Neonatal Inflammatory Skin And Bowel Disease
Orphanet
Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections.
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Heavy Chain Deposition Disease
Orphanet
Patients most commonly present with renal involvement (manifesting as hypertension, progressive renal dysfunction, anemia, and nephrotic syndrome with microhematuria), but other organs (such as the liver or skin) may also be affected.
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Superficial Granulomatous Pyoderma
Wikipedia
Superficial granulomatous pyoderma Specialty Dermatology Superficial granulomatous pyoderma is a cutaneous condition, a variant of pyoderma gangrenosum characterized by a localized superficial vegetative or ulcerative lesion, which usually follows trauma, such as surgery. [1] See also [ edit ] PAPA syndrome List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
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Microcephalic Primordial Dwarfism, Montreal Type
Orphanet
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability.
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Cryptogenic Multifocal Ulcerous Stenosing Enteritis
Orphanet
Extraintestinal manifestations such as sicca syndrome, polyarthralgia, or Raynaud's phenomenon may also be observed.
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Mosaic Trisomy 22
Orphanet
Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis).
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Keratinopathic Ichthyosis
Orphanet
A group of rare inherited non-syndromic ichthyoses characterized by mutations in keratin genes.
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Acrofacial Dysostosis, Palagonia Type
Orphanet
Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis.
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Immunodeficiency With Factor I Anomaly
Orphanet
Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.
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Leishmaniasis
Orphanet
The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).TNF, IFNG, IL10, IL6, ARG1, IL18, CRP, TNFRSF18, MCL1, HSPA4, IL1B, SLC11A1, CXCL10, NLRP3, IL17A, TLR2, CCR5, TLR4, IL32, PRDX2, LEP, TGFB1, CD274, FCN2, CD163, MTOR, HM13, IL4, BCL2, BAX, LMLN, IGF1, HIF1A, ANXA1, VDR, UNG, TAM, NR0B2, EZR, ADA, TLR3, STAT1, MAPK3, MAPK4, EIF2AK2, PSG5, PSMD7, PTHLH, PTPN1, PTPN2, PTPN6, RPA1, RPS6, CCL2, CCL8, CXCL11, SLC1A5, SLC1A7, SNAP25, SOAT1, SPP1, TP63, EIF2S2, CDK5R1, GOPC, FOXP3, HSPA14, CD244, TOLLIP, FBLIM1, MSTO1, FBXW7, ACSS2, PDXP, SLC52A2, ALDH1A2, TMPRSS13, DCLK3, IL33, CDCA5, PWAR1, ARMH1, HNP1, CCR2, UPK3B, DLL1, SGSM3, NOX1, PABPC1, NR1I2, SPHK1, EIF2B4, EIF2B2, PRKAB1, HSPB3, SLC7A6, ARHGEF2, AIM2, H6PD, RABEPK, LANCL1, TNFSF13B, EBNA1BP2, CD160, GABARAPL2, GABARAPL1, PRDX5, POLR1A, MAPK1, NOS2, PRKAA2, PRKAA1, CST3, CTLA4, CTSB, CTSL, CYP51A1, DDT, DHFR, DPAGT1, DPP4, DSPP, DUSP4, EEF1B2, EEF2, EGFR, EIF2B1, F2R, FCGR2A, FECH, FLI1, CPB1, CCR7, LRBA, ATR, AKT1, ALDH1A1, APEX1, APRT, AQP1, ATM, ATP2A3, ATP2B4, PRDM1, CD69, BRCA1, CAPN1, CD1A, CD28, CD86, CD40, CD40LG, CD44, FPR2, G6PD, GAPDH, CYTB, MNAT1, CD200, MPG, MPL, MPST, MRC1, MSMB, MST1, AHR, MFAP1, PAEP, PHB, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PLP1, PNOC, MAP3K10, MBL2, GCHFR, IFNB1, GCK, GTF3C1, HLA-C, HMOX1, HSPD1, IFN1@, IFNA1, IFNA13, IL1A, LTA, IL9, IL12A, IL12RB1, IL13, ITGA4, ITGAL, JAK2, RPSA, H3P28
- Earlobe Crease Omim
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Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy
Wikipedia
The third stage (early neurological) is marked by the onset of symptoms typical of a frontal lobe syndrome ( euphoria , lack of concentration, loss of judgment and social inhibitions) with memory loss. ... TYROBP is located on the long arm of chromosome 19 (19q13.12) and TREM2 is located on short arm of chromosome 6 (6p21.1). [ citation needed ] Pathopysiology [ edit ] This is not understood but appears to involve the microglia. [ citation needed ] Diagnosis [ edit ] This syndrome may be suspected on clinical grounds.
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Diabetic Cheiroarthropathy
Wikipedia
Diabetic cheiroarthropathy Other names Limited Joint Mobility , or LJM Specialty Dermatology Diabetic cheiroarthropathy , also known as Diabetic stiff hand syndrome or limited joint mobility syndrome, is a cutaneous condition characterized by waxy, thickened skin and limited joint mobility of the hands and fingers, leading to flexion contractures, a condition associated with diabetes mellitus [1] : 681 and it is observed in roughly 30% of diabetic patients with longstanding disease. [2] : 540 [3] It can be a predictor for other diabetes-related complications and was one of the earliest known complications of diabetes, first documented in 1974. [4] In the fingers, diabetic cheiroarthropathy can cause such extreme limited mobility that the patient is unable to fully extend the fingers in order to flatten the hand.
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Intellectual Developmental Disorder, Autosomal Recessive 71
Omim
Four sibs from family 2 showed some similar dysmorphic features, including macrocephaly, large ears, long face, deep-set eyes, and prune belly syndrome; 1 patient in this family had a congenital ventricular septal defect and thickened aortic valve, 1 had a solitary kidney, and another had cryptorchidism. ... INHERITANCE - Autosomal recessive HEAD & NECK Head - Macrocephaly (family A) Face - Dysmorphic features, variable, non-specific - Long face Ears - Large ears Eyes - Large eyes - Deep-set eyes Mouth - Overbite CARDIOVASCULAR Heart - Ventricular septal defect (1 patient) - Thick aortic valve (1 patient) ABDOMEN External Features - Prune belly syndrome (family A) GENITOURINARY External Genitalia (Male) - Small penis - Cryptorchidism Kidneys - Solitary kidney (1 patient) NEUROLOGIC Central Nervous System - Global developmental delay - Impaired intellectual development - Poor language - Mildly delayed walking - Seizures (in most patients) Behavioral Psychiatric Manifestations - Hyperactivity - Attention deficit - Stereotypic behaviors MISCELLANEOUS - Seizures are well-controlled by medication and usually remit spontaneously - Two unrelated consanguineous Saudi families have been reported (last curated July 2019) MOLECULAR BASIS - Caused by mutation in the AlkB, E.
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Oocyte Maturation Defect 3
Omim
Description Oocyte maturation defect-3 is characterized by infertility, caused by absence of the zona pellucida that results in degeneration of oocytes and 'empty follicle syndrome' on in vitro fertilization procedures (Chen et al., 2017). ... Analysis of ZP3 in a cohort of 21 women who exhibited empty follicle syndrome during IVF attempts identified 2 unrelated patients who were heterozygous for the A134T variant.
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B-Cell Leukemia
Wikipedia
Types include (with ICD-O code): 9823/3 - B-cell chronic lymphocytic leukemia /small lymphocytic lymphoma 9826/3 - Acute lymphoblastic leukemia , mature B-cell type 9833/3 - B-cell prolymphocytic leukemia 9835/3-9836/3 - Precursor B lymphoblastic leukemia 9940/3 - Hairy cell leukemia See also [ edit ] T-cell leukemia B-cell lymphoma External links [ edit ] Classification D ICD - 10 : C91 MeSH : D015448 v t e Leukaemias , lymphomas and related disease B cell ( lymphoma , leukemia ) (most CD19 CD20 ) By development/ marker TdT+ ALL ( Precursor B acute lymphoblastic leukemia/lymphoma ) CD5 + naive B cell ( CLL/SLL ) mantle zone ( Mantle cell ) CD22 + Prolymphocytic CD11c+ ( Hairy cell leukemia ) CD79a + germinal center / follicular B cell ( Follicular Burkitt's GCB DLBCL Primary cutaneous follicle center lymphoma ) marginal zone / marginal zone B-cell ( Splenic marginal zone MALT Nodal marginal zone Primary cutaneous marginal zone lymphoma ) RS ( CD15 +, CD30 +) Classic Hodgkin lymphoma ( Nodular sclerosis ) CD20+ ( Nodular lymphocyte predominant Hodgkin lymphoma ) PCDs / PP ( CD38 +/ CD138 +) see immunoproliferative immunoglobulin disorders By infection KSHV ( Primary effusion ) EBV Lymphomatoid granulomatosis Post-transplant lymphoproliferative disorder Classic Hodgkin lymphoma Burkitt's lymphoma HCV Splenic marginal zone lymphoma HIV ( AIDS-related lymphoma ) Helicobacter pylori ( MALT lymphoma ) Cutaneous Diffuse large B-cell lymphoma Intravascular large B-cell lymphoma Primary cutaneous marginal zone lymphoma Primary cutaneous immunocytoma Plasmacytoma Plasmacytosis Primary cutaneous follicle center lymphoma T/NK T cell ( lymphoma , leukemia ) (most CD3 CD4 CD8 ) By development/ marker TdT+ : ALL ( Precursor T acute lymphoblastic leukemia/lymphoma ) prolymphocyte ( Prolymphocytic ) CD30+ ( Anaplastic large-cell lymphoma Lymphomatoid papulosis type A ) Cutaneous MF+variants indolent: Mycosis fungoides Pagetoid reticulosis Granulomatous slack skin aggressive: Sézary disease Adult T-cell leukemia/lymphoma Non-MF CD30 -: Non-mycosis fungoides CD30− cutaneous large T-cell lymphoma Pleomorphic T-cell lymphoma Lymphomatoid papulosis type B CD30 +: CD30+ cutaneous T-cell lymphoma Secondary cutaneous CD30+ large-cell lymphoma Lymphomatoid papulosis type A Other peripheral Hepatosplenic Angioimmunoblastic Enteropathy-associated T-cell lymphoma Peripheral T-cell lymphoma not otherwise specified ( Lennert lymphoma ) Subcutaneous T-cell lymphoma By infection HTLV-1 ( Adult T-cell leukemia/lymphoma ) NK cell / (most CD56 ) Aggressive NK-cell leukemia Blastic NK cell lymphoma T or NK EBV ( Extranodal NK-T-cell lymphoma / Angiocentric lymphoma ) Large granular lymphocytic leukemia Lymphoid+ myeloid Acute biphenotypic leukaemia Lymphocytosis Lymphoproliferative disorders ( X-linked lymphoproliferative disease Autoimmune lymphoproliferative syndrome ) Leukemoid reaction Diffuse infiltrative lymphocytosis syndrome Cutaneous lymphoid hyperplasia Cutaneous lymphoid hyperplasia with bandlike and perivascular patterns with nodular pattern Jessner lymphocytic infiltrate of the skin General Hematological malignancy leukemia Lymphoproliferative disorders Lymphoid leukemiasCD19, BCL2, CASP3, BAX, MYC, BCL6, MCL1, CCND1, BCL3, BCL11B, BTK, ABL1, SPG7, TNF, TP53, NR1I3, CASP9, TRIM13, IRF4, IGH, ETV6, CXADR, CXADRP1, CASR, PRKAR1A, AKT1, ARR3, CASP8, TRBV20OR9-2, MMP9, NFKB1, PAX5, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PSMB6, YY1, IL6, ARHGEF7, PDLIM7, BCL2L11, BIRC2, TNFSF13B, DLL1, ASCC1, KRT20, DUX4, MME, H3P40, CD5, CD6, CDKN1A, MS4A1, CD40, SEMA4D, CARTPT, CFLAR, CD28, BCL10, CKAP4, CD22, LONP1, COG1, HDAC9, IKZF1, PIEZO1, PSIP1, BIRC3, CD9, DNM1L, CXCL13, BRAF, DUSP5, IQGAP1, TNFRSF11A, ZAP70, TMSB4X, AQP1, TNFRSF1A, TNFRSF1B, XIAP, USF1, UTRN, UVRAG, CD33, ZFP36, TNFSF13, ZBTB17, BTG2, NR4A3, HMGA2, PIK3R3, DENR, KHSRP, TP63, BECN1, CDC37, ATF5, POLG2, TARP, BMF, CCDC34, ST13P4, RNF217, PCSK9, H3P44, MIR142, MIR21, MIR196B, DUSP5P1, TIMP1, CCND2, MAGED4, RNA28SN5, RUNX1, LINC01541, KLRC4-KLRK1, MTCO2P12, RNA28SN4, RNA28S5, TSLP, ABCC11, HAVCR2, MINDY4, KLRK1, TBC1D9, LPIN1, MAPK8IP2, DAPK2, SIGLEC7, CD274, ERVW-1, IGK, GDE1, TRIM33, CD247, BCOR, MIB1, SUGP1, ACE2, CRLF2, APAF1, MAGED4B, TIMP2, TRGC1, TGFA, LMO1, IL3RA, DLX3, CXCL8, TNFRSF9, BCL9, ITGAX, IVL, JAK2, LAMA4, MAGEA1, MPP1, MAS1, ATR, MEF2D, MEIS1, MKI67, MAP3K11, MLLT1, BNIP3, MMP2, IL2RG, IL2RB, IL2RA, IL2, BMI1, MECOM, EZH2, PTK2B, FASN, FLG, FLT3, FOS, GPLD1, GRM3, H1-0, HCLS1, HLA-DOA, HLA-DOB, NR4A1, HOXA@, HOXA9, BID, IL1A, CUX1, MRC1, ERG, SLC2A1, PTK2, PLAAT4, RBP4, RENBP, BRD2, RPE65, S100A8, CCL19, BTG1, FSCN1, COX2, CD37, SRF, ST13, STK11, ABCC8, TCF3, ZEB1, CD34, TRG, PTGS2, PTEN, PSMD12, PARP1, MTTP, ATM, CTLA4, NOS3, YBX1, ROR1, ROR2, NTS, NUP98, P4HB, CSPG4, PBX1, ABCB1, ABCB4, CRMP1, CCR7, PIM1, CDK4, POU2AF1, SGK1
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Renal Dysplasia, Cystic, Susceptibility To
Omim
Diffuse cystic renal dysplasia is often seen in malformation syndromes, of which the investigators listed a number. ... Noting clinical overlap with the renal cyst and early-onset diabetes syndrome (RCAD; 137920), Kraus et al. (2012) could not exclude that these patients may later develop additional manifestations.
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Syngap1-Related Developmental And Epileptic Encephalopathy
Orphanet
Generalized epilepsy is present in most with seizure onset typically at 2-3 years (ranges from 4 months to 7 years) with a distinctive epilepsy syndrome, combining eyelid myoclonia with absences and myoclonic-atonic seizures. ... Seizures semiology, trigger factors and EEG patterns can help to differentiate this syndrome and orient the genetic testing.
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Congenital Primary Megaureter
Orphanet
It may be associated with megacystis megaureter syndrome and prune belly syndrome (see this term).
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Segmental Odontomaxillary Dysplasia
Orphanet
Some authors consider SOD and HMD to be different manifestations of the same syndrome. Regional odontodysplasia is characterized by delayed eruption or failure of eruption of discoloured and atypically shaped teeth. ... Due to the possibility of a vascular origin for regional odontodysplasia, all patients with this syndrome must be carefully examined in the face and neck region for vascular malformations of any type, bearing in mind that vascular skin lesions (birthmarks) may fade during childhood.