MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Ectodermal Dysplasia (D004476)
..Starting node
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ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)

       Child Nodes:



 Sister Nodes: 
..expandAdams Oliver syndrome (C538225)
..expandAlves Castelo dos Santos syndrome (C536593)
..expandAnal sphincter dysplasia (C538254)
..expandAplasia cutis congenita intestinal lymphangiectasia (C537788)
..expandAplasia cutis congenita of limbs recessive (C536840)
..expandAplasia Cutis Congenita with Epibulbar Dermoids (C563969)
..expandAplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..expandAplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..expandAREDYLD Syndrome (C537427)
..expandArthrogryposis and ectodermal dysplasia (C537441)
..expandBasan syndrome (C537659)
..expandBrain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And (C564519)
..expandBrunoni syndrome (C537408)
..expandCardiofaciocutaneous syndrome (C535579)
..expandCerebellar ataxia ectodermal dysplasia (C535350)
..expandCleft Lip with or without Cleft Palate, Nonsyndromic, 8 (C565070)
..expandCongenital ectodermal dysplasia with hearing loss (C535757)
..expandCONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
..expandContractures ectodermal dysplasia cleft lip palate (C535465)
..expandCranioectodermal Dysplasia (C562966) Child1
..expandDeafness with Anhidrotic Ectodermal Dysplasia (C565119)
..expandDermatoosteolysis Kirghizian type (C535373)
..expandEctodermal Dysplasia 1, Anhidrotic (D053358) Child1
..expandECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
..expandECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
..expandECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
..expandEctodermal Dysplasia 3, Anhidrotic (D053359)
..expandECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
..expandECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
..expandECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
..expandEctodermal dysplasia adrenal cyst (C538015)
..expandEctodermal dysplasia alopecia preaxial polydactyly (C538016)
..expandEctodermal Dysplasia and Neurosensory Deafness (C565606)
..expandEctodermal dysplasia mental retardation syndactyly (C538018)
..expandEctodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
..expandEctodermal Dysplasia with Natal Teeth, Turnpenny Type (C563347)
..expandEctodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..expandEctodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (C567411)
..expandEctodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..expandEctodermal Dysplasia, Hidrotic, Autosomal Recessive (C566553)
..expandEctodermal dysplasia, hidrotic, Christianson-Fourie type (C536180)
..expandEctodermal Dysplasia, Hypohidrotic, Autosomal Recessive (D053360)
..expandEctodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum (C565605)
..expandEctodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia (C565604)
..expandEctodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..expandEctodermal Dysplasia, Pure Hair-Nail Type (C566592)
..expandEctodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
..expandEctodermal Dysplasia, Trichoodontoonychial Type (C565068)
..expandEctodermal Dysplasia-Skin Fragility Syndrome (C536183)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
..expandECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
..expandEctrodactyly and Ectodermal Dysplasia without Cleft Lip-Palate (C565065)
..expandEctrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1 (C565062)
..expandEctrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 (C565799)
..expandEctrodactyly-cleft lip-palate syndrome (C536189)
..expandEllis-Van Creveld Syndrome (D004613) Child6
..expandEpidermolysis bullosa with pyloric atresia (C535377)
..expandEuhidrotic ectodermal dysplasia (C535763)
..expandFacial ectodermal dysplasia (C536385)
..expandFocal Dermal Hypoplasia (D005489) Child1
..expandFocal facial dermal dysplasia (C537068)
..expandFreire-Maia odontotrichomelic syndrome (C535637)
..expandHalal Setton Wang syndrome (C535621)
..expandHay Wells syndrome recessive type (C535846)
..expandHay-Wells syndrome (C535847)
..expandHyper-IgM Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic (C564542)
..expandJohanson Blizzard syndrome (C535880)
..expandJones Hersh Yusk syndrome (C535885)
..expandLadda Zonana Ramer syndrome (C538135)
..expandLelis Syndrome (C564261)
..expandLINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
..expandMadokoro Ohdo Sonoda syndrome (C537838)
..expandNaegeli syndrome (C538331)
..expandNEMO mutation with immunodeficiency (C538399)
..expandNeurocutaneous Syndromes (D020752) Child42  LSDB C:1
..expandOdontomicronychial dysplasia (C537741)
..expandOdontoonychodermal dysplasia (C537742)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOrofacial Cleft 7 (C563464)
..expandPachyonychia Congenita (D053549) Child5
..expandPinheiro Freire-Maia Miranda syndrome (C537402)
..expandPropping Zerres syndrome (C538052)
..expandRapp-Hodgkin syndrome (C535289)
..expandRobinson Miller Bensimon syndrome (C535864)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSener syndrome (C537579)
..expandSeres-Santamaria Arimany Muniz syndrome (C537585)
..expandTaurodontia absent teeth sparse hair (C536945)
..expandTetra amelia with ectodermal dysplasia and lacrimal duct abnormalities (C536496)
..expandTrichodental syndrome (C536551)
..expandTrichoodontoonychial Dysplasia (C564760)
..expandTrichoscyphodysplasia (C536557)
..expandTRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
..expandTrueb Burg Bottani syndrome (C536565)
..expandYunis Varon syndrome (C536719)
..expandZlotogora-Ogur syndrome (C536726)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3974
Name:ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE
Definition:
Alternative IDs:
ParentIDs:MESH:D004476
TreeNumbers:C16.131.077.350/614929 |C16.131.831.350/614929 |C16.320.850.250/614929 |C17.800.804.350/614929 |C17.800.827.250/614929
Synonyms:ECTD7
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Skin disease
Reference: MedGen: 614929
MeSH: 614929
OMIM: 614929;
MSeqDR LSDB:  
Genes: GJB3; GJB4; KRT74;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002299Brittle hair
3 HP:0008391Dystrophic fingernails
4 HP:0001810Dystrophic toenail
5 HP:0007436Hair-nail ectodermal dysplasia
6 HP:0001006Hypotrichosis
7 HP:0001806Onycholysis
8 HP:0000535Sparse and thin eyebrow
9 HP:0000653Sparse eyelashes
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_175053.4(KRT74):c.821T>C (p.Phe274Ser)121391KRT74Benignrs147962513RCV000128640|RCV000128478|RCV000437328; NMONDO:MONDO:0013975,MedGen:C3554117,OMIM:614929, Orphanet:69084|MONDO:MONDO:0011177,MedGen:CN029917,OMIM:602032, Orphanet:69084|MedGen:CN517202125296516552965165AG12:g.52965165A>GClinGen:CA163278,UniProtKB:Q7RTS7#VAR_071383,OMIM:608248.0004C3554117 614929 Ectodermal dysplasia 7, hair/nail type;
MSeqDR Portal