MSeqDR Mitochondrial Disease Portal


 
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Craniofacial Abnormalities (D019465)
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Diseases (C)
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Growth Disorders (D006130)
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Pelviscapular dysplasia (C535550)
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COUSIN SYNDROME (OMIM:260660)

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..expandCOUSIN SYNDROME (OMIM:260660)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3096
Name:COUSIN SYNDROME
Definition:
Alternative IDs:
ParentIDs:MESH:C535550|MESH:D006130|MESH:D019465
TreeNumbers:C05.116.099.370/C535550/260660 |C05.660.207/260660 |C16.131.621.207/260660 |C23.550.393/260660
Synonyms:CRANIOFACIAL DYSMORPHISM, HYPOPLASIA OF SCAPULA AND PELVIS, AND SHORT STATURE |PELVISCAPULAR DYSPLASIA
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Pathology (process)
Reference: MedGen: 260660
MeSH: 260660
OMIM: 260660;
MSeqDR LSDB:  
Genes: TBX15;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:00046912-3 toe syndactyly
3 HP:00046924-5 toe syndactyly
4 HP:0001999Abnormal facial shape
5 HP:0006077Absent proximal finger flexion creases
6 HP:0009085Alveolar ridge overgrowth
7 HP:0000061Ambiguous genitalia, female
8 HP:0000033Ambiguous genitalia, male
9 HP:0008488Anterior rounding of vertebral bodies
10 HP:0001591Bell-shaped thorax
11 HP:0000581Blepharophimosis
12 HP:0012385Camptodactyly
13 HP:0000175Cleft palate
14 HP:0004209Clinodactyly of the 5th finger
15 HP:0003083Dislocated radial head
16 HP:0009937Facial hirsutism
17 HP:0002990Fibular aplasia
18 HP:0002324Hydranencephaly
19 HP:0000238Hydrocephalus
20 HP:0000126Hydronephrosis
21 HP:0002866Hypoplastic iliac wing
22 HP:0003175Hypoplastic ischia
23 HP:0003173Hypoplastic pubic bone
24 HP:0000882Hypoplastic scapulae
25 HP:0009473Joint contracture of the hand
26 HP:0000890Long clavicles
27 HP:0003027Mesomelia
28 HP:0000482Microcornea
29 HP:0000171Microglossia
30 HP:0000347Micrognathia
31 HP:0000568Microphthalmia
32 HP:0011266Microtia, first degree
33 HP:0008472Prominent protruding coccyx
34 HP:0008905Rhizomelia
35 HP:0012745Short palpebral fissure
36 HP:0001762Talipes equinovarus
37 HP:0001770Toe syndactyly
38 HP:0001239Wrist flexion contracture
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)6913TBX15Uncertain significancers144291418RCV000378295|RCV001270113; NMedGen:CN517202|MONDO:MONDO:0009845,MedGen:C1850040,OMIM:260660, Orphanet:933331119427839119427839CT1:g.119427839C>TClinGen:CA1034865CN169374 not specified;
MSeqDR Portal