SHFM1D
MCID: SPL048
MIFTS: 19

Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss (SHFM1D) malady

Categories: Genetic diseases, Ear diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

Aliases & Descriptions for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss:

Name: Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss 54 24 29 13
Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 54 66
Shfm1d 24 66
Split-Hand-Foot Malformation with Sensorineural Hearing Loss 69
Congenital Deafness and Split Hands and Feet 66
Split Hand-Split Foot-Deafness Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
split hand-split foot-deafness syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
split-hand/foot malformation 1 with sensorineural hearing loss:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 220600
Orphanet 56 ORPHA71271
ICD10 via Orphanet 34 Q87.2
MedGen 40 C1857344

Summaries for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

UniProtKB/Swiss-Prot : 66 Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive: A disease characterized by the association of split-hand/foot malformation with deafness. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.

MalaCards based summary : Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, is also known as split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive, and has symptoms including scoliosis, sensorineural hearing impairment and abnormality of the nail. An important gene associated with Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss is DLX5 (Distal-Less Homeobox 5). Affiliated tissues include bone.

Description from OMIM: 220600

Related Diseases for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

Symptoms & Phenotypes for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

Symptoms by clinical synopsis from OMIM:

220600

Clinical features from OMIM:

220600

Human phenotypes related to Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 sensorineural hearing impairment 32 HP:0000407
3 abnormality of the nail 32 HP:0001597
4 severe short stature 32 HP:0003510
5 split hand 32 HP:0001171
6 tapered finger 32 HP:0001182
7 split foot 32 HP:0001839

Drugs & Therapeutics for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

Search Clinical Trials , NIH Clinical Center for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

Genetic Tests for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

Genetic tests related to Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss:

id Genetic test Affiliating Genes
1 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss 29 24 DLX5

Anatomical Context for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

MalaCards organs/tissues related to Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss:

39
Bone

Publications for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

Variations for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

UniProtKB/Swiss-Prot genetic disease variations for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss:

66
id Symbol AA change Variation ID SNP ID
1 DLX5 p.Gln178Pro VAR_067413 rs387906737

ClinVar genetic disease variations for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DLX5 NM_005221.5(DLX5): c.533A> C (p.Gln178Pro) single nucleotide variant Pathogenic rs387906737 GRCh37 Chromosome 7, 96651504: 96651504

Expression for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

Search GEO for disease gene expression data for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss.

Pathways for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

GO Terms for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

Sources for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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