MCID: SPL048
MIFTS: 33

Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

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

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

MalaCards integrated aliases for Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss:

Name: Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss 54 24 29 13
Shfm1d 12 24 71
Split Hand-Foot Malformation 1 with Sensorineural Hearing Loss 12 14
Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 71
Split-Hand-Foot Malformation with Sensorineural Hearing Loss 69
Congenital Deafness with Split Hands and Feet 12
Congenital Deafness and Split Hands and Feet 71
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;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 54 220600
Disease Ontology 12 DOID:0090024
ICD10 33 Q87.2
Orphanet 56 ORPHA71271
UMLS via Orphanet 70 C1857344
ICD10 via Orphanet 34 Q87.2
MedGen 40 C1857344

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

UniProtKB/Swiss-Prot : 71 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, also known as shfm1d, is related to myelodysplasia and leukemia syndrome with monosomy 7 and encephalopathy, neonatal severe, and has symptoms including scoliosis, sensorineural hearing impairment and split foot. An important gene associated with Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss is DLX5 (Distal-Less Homeobox 5), and among its related pathways/superpathways is MECP2 and Associated Rett Syndrome. Affiliated tissues include bone, and related phenotypes are integument and limbs/digits/tail

Disease Ontology : 12 A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has material basis in homozygous mutation in the DLX5 gene on chromosome 7q21.

Description from OMIM: 220600

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

Graphical network of the top 20 diseases related to Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss:



Diseases related to Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

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

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
sensorineural hearing loss

Skeletal- Hands:
ectrodactyly
split hand
tapered fingers (in some patients)
dorsalization of palms (in some patients)
restriction of flexion at all metacarpophalangeal and interphalangeal joints (in some patients)

Skeletal- Spine:
scoliosis, mild (rare)

Skin Nails & Hair- Nails:
cylindrical nails (in some patients)

Skeletal- Feet:
ectrodactyly
split foot
asymmetrical severely deformed feet (in some patients)

Growth- Height:
short stature, severe (in some patients)

Skeletal- Limbs:
asymmetric short and severely deformed legs (in some patients)
normal lower limbs (in some patients)


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 occasional (7.5%) HP:0002650
2 sensorineural hearing impairment 32 HP:0000407
3 split foot 32 HP:0001839
4 split hand 32 HP:0001171
5 abnormality of the nail 32 occasional (7.5%) HP:0001597
6 severe short stature 32 occasional (7.5%) HP:0003510
7 tapered finger 32 occasional (7.5%) HP:0001182

MGI Mouse Phenotypes related to Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.46 COL1A2 DLX5 DLX6 KRIT1
2 limbs/digits/tail MP:0005371 9.26 COL1A2 DLX5 DLX6 KRIT1
3 muscle MP:0005369 8.92 COL1A2 DLX5 KRIT1 SGCE

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:

71
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

Pathways related to Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.42 DLX5 DLX6

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

Biological processes related to Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of canonical Wnt signaling pathway GO:0090263 9.46 DLX5 SEM1
2 palate development GO:0060021 9.43 DLX5 DLX6
3 epithelial cell differentiation GO:0030855 9.4 DLX5 DLX6
4 positive regulation of epithelial cell proliferation GO:0050679 9.37 DLX5 DLX6
5 inner ear morphogenesis GO:0042472 9.32 DLX5 DLX6
6 embryonic limb morphogenesis GO:0030326 9.26 DLX5 DLX6
7 anatomical structure formation involved in morphogenesis GO:0048646 9.16 DLX5 DLX6
8 head development GO:0060322 8.96 DLX5 DLX6
9 skeletal system development GO:0001501 8.8 COL1A2 DLX5 DLX6

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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