MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Arthritis (D001168)
Parent Node:
expand
Hereditary Autoinflammatory Diseases (D056660)
Parent Node:
expand
Inflammation (D007249)
Parent Node:
expand
Skin Abnormalities (D012868)
..Starting node
..expand
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)

       Child Nodes:



 Sister Nodes: 
..expandAcrodermatitis (D000169) Child1
..expandAnetoderma (D057088) Child2
..expandArthropathy, Erosive (C565273)
..expandAUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
..expandBarber Say syndrome (C537908)
..expandBlepharophimosis syndrome type 1 (C536233)
..expandBlepharophimosis syndrome type 2 (C536234)
..expandBlepharophimosis with ptosis, syndactyly, and short stature (C536235)
..expandBlepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
..expandBook Syndrome (C562993)
..expandBrittle cornea syndrome 1 (C536192)
..expandC1q DEFICIENCY (OMIM:613652)
..expandCarney Complex (D056733) Child1
..expandCOCOON SYNDROME (OMIM:613630)
..expandComedones, Familial Dyskeratotic (C562838)
..expandCutis Gyrata Syndrome of Beare And Stevenson (C565129)
..expandDermal Ridges, Nelson Syndrome (C565110)
..expandDermal Ridges, Patternless (C565109)
..expandDermoodontodysplasia (C565103)
..expandDyskeratosis Congenita (D019871) Child3
..expandDyskeratosis, Hereditary Benign Intraepithelial (C562551)
..expandEctodermal Dysplasia (D004476) Child144  LSDB C:1
..expandEhlers-Danlos Syndrome (D004535) Child23
..expandEpidermolysis Bullosa (D004820) Child29
..expandEpithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
..expandFamilial popliteal pterygium syndrome (C535891)
..expandHairy palms and soles (C535620)
..expandHemangiomatosis, Cutaneous, with Associated Features (C562438)
..expandHyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations (C566153)
..expandHypohidrosis with Abnormal Palmar Dermal Ridges (C565481)
..expandIchthyosis (D007057) Child66
..expandIchthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..expandIncontinentia Pigmenti (D007184) Child2
..expandKeratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..expandKOSAKI OVERGROWTH SYNDROME (OMIM:616592)
..expandLINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 (OMIM:300952)
..expandMichelin tire baby syndrome (C537575)
..expandMicrophthalmia, syndromic 7 (C537466)
..expandMultiple pterygium syndrome (C537377) Child1
..expandOculocerebrocutaneous syndrome (C538088)
..expandPoikiloderma with Neutropenia (C565820)
..expandPoikiloderma, Hereditary Sclerosing (C562824)
..expandPort-Wine Stain (D019339) Child4
..expandProlidase Deficiency (D056732)
..expandPseudoxanthoma Elasticum (D011561) Child2
..expandPterygium Colli, Isolated (C566741)
..expandRidges-off-the-end syndrome (C531754)
..expandRothmund-Thomson Syndrome (D011038) Child5
..expandSclerema Neonatorum (D012593)
..expandSkin-Hair-Eye Pigmentation, Variation In, 10 (C567376)
..expandSkin-Hair-Eye Pigmentation, Variation In, 11 (C567374)
..expandSkin-Hair-Eye Pigmentation, Variation In, 4 (C567300)
..expandSkin-Hair-Eye Pigmentation, Variation In, 5 (C567119)
..expandSkin-Hair-Eye Pigmentation, Variation In, 6 (C567139)
..expandSkin-Hair-Eye Pigmentation, Variation In, 7 (C567155)
..expandSkin-Hair-Eye Pigmentation, Variation In, 8 (C567096)
..expandSkin-Hair-Eye Pigmentation, Variation In, 9 (C567091)
..expandTight skin contracture syndrome, lethal (C536920)
..expandTrichothiodystrophy Syndromes (D054463) Child5
..expandUrban Schosser Spohn syndrome (C536476)
..expandVascular Hyalinosis (C564750)
..expandWinter Shortland Temple syndrome (C536735)
..expandXeroderma Pigmentosum (D014983) Child16
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1158
Name:AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
Definition:
Alternative IDs:
ParentIDs:MESH:D001168|MESH:D007249|MESH:D012868|MESH:D056660
TreeNumbers:C05.550.114/617388 |C16.131.831/617388 |C16.320.382/617388 |C17.800.804/617388 |C17.800.827.368/617388 |C23.550.470/617388
Synonyms:AIADK
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)|Skin disease
Reference: MedGen: 617388
MeSH: 617388
OMIM: 617388;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0001890Autoimmune hemolytic anemia
4 HP:0003493Antinuclear antibody positivity
5 HP:0011496Corneal neovascularization
6 HP:0000958Dry skin
7 HP:0025092Epidermal acanthosis
8 HP:0001508Failure to thrive
9 HP:0001510Growth delay
NAMDC:  Growth delay
10 HP:0000962Hyperkeratosis
11 HP:0003261Increased IgA level
12 HP:0001097Keratoconjunctivitis sicca
13 HP:0000613Photophobia
14 HP:0005764Polyarticular arthritis
15 HP:0011859Punctate keratitis
16 HP:0001744Splenomegaly
17 HP:0100646Thyroiditis
18 HP:0000554Uveitis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_033004.4(NLRP1):c.3641C>G (p.Pro1214Arg)22861NLRP1Pathogenicrs1057524876RCV000445359; NMONDO:MONDO:0060457,MedGen:C4479278,OMIM:6173881754249865424986GC17:g.5424986G>CClinGen:CA16609235,OMIM:606636.0007
NM_033004.4(NLRP1):c.3550A>G (p.Met1184Val)22861NLRP1Benignrs11651270RCV000455985|RCV001512625|RCV001782918|RCV001782919|RCV001782917; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0060457,MedGen:C4479278,OMIM:617388|MONDO:MONDO:0032925,MedGen:C5394112,OMIM:618803|Gene:107988031,MONDO:MONDO:0014089,MedGen:C3808876,OMIM:615225, Orphanet:3526621754250775425077TC17:g.5425077T>CClinGen:CA8326789CN169374 not specified;
NM_033004.4(NLRP1):c.2176C>T (p.Arg726Trp)22861NLRP1Uncertain significancers776245016RCV000445355; NMONDO:MONDO:0060457,MedGen:C4479278,OMIM:6173881754618405461840GA17:g.5461840G>AClinGen:CA8327238,OMIM:606636.0006
NM_033004.4(NLRP1):c.2170G>A (p.Glu724Lys)22861NLRP1Uncertain significancers1347045059RCV001197219; NMONDO:MONDO:0060457,MedGen:C4479278,OMIM:6173881754618465461846CT17:g.5461846C>T-
NM_033004.4(NLRP1):c.1580G>A (p.Cys527Tyr)22861NLRP1Uncertain significancers1914443247RCV001333384; NMONDO:MONDO:0060457,MedGen:C4479278,OMIM:6173881754624365462436CT5462436-
NM_033004.4(NLRP1):c.790del (p.Cys264fs)22861NLRP1Uncertain significancers1597460588RCV000996468|RCV001198015; NMedGen:CN517202|MONDO:MONDO:0060457,MedGen:C4479278,OMIM:6173881754632265463226CAC17:g.5463226_5463226del-
NM_033004.4(NLRP1):c.464T>A (p.Leu155His)22861NLRP1Benignrs12150220RCV000004380|RCV001510771|RCV001781176|RCV001781175|RCV001781177; NMONDO:MONDO:0011684,MedGen:C1847835,OMIM:606579, Orphanet:247871|MedGen:CN517202|MONDO:MONDO:0060457,MedGen:C4479278,OMIM:617388|Gene:107988031,MONDO:MONDO:0014089,MedGen:C3808876,OMIM:615225, Orphanet:352662|MONDO:MONDO:0032925,MedGen:C5394112,OMIM:618801754853675485367AT17:g.5485367A>TClinGen:CA018555,UniProtKB:Q9C000#VAR_033239,OMIM:606636.0001C1847835 606579 Vitiligo-associated multiple autoimmune disease susceptibility 1;
NM_033004.4(NLRP1):c.114G>C (p.Ser38=)22861NLRP1Benignrs884367RCV000455000|RCV001516486|RCV001782921|RCV001782920|RCV001782922; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0060457,MedGen:C4479278,OMIM:617388|Gene:107988031,MONDO:MONDO:0014089,MedGen:C3808876,OMIM:615225, Orphanet:352662|MONDO:MONDO:0032925,MedGen:C5394112,OMIM:6188031754871645487164CG17:g.5487164C>GClinGen:CA8327651CN169374 not specified;
MSeqDR Portal