MCID: SPL068
MIFTS: 34

Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive

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, Autosomal Recessive:

Name: Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 57 75
Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss 57 29 13 6
Shfm1d 57 12 75
Split Hand-Foot Malformation 1 with Sensorineural Hearing Loss 12 15
Split-Hand/foot Malformation, Type 1 with Sensorineural Hearing Loss 40
Split-Hand-Foot Malformation with Sensorineural Hearing Loss 73
Deafness, Congenital, with Split Hands and Feet 57
Congenital Deafness with Split Hands and Feet 12
Congenital Deafness and Split Hands and Feet 75
Split Hand-Split Foot-Deafness Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 57 220600
Disease Ontology 12 DOID:0090024
ICD10 33 Q87.2
Orphanet 59 ORPHA71271
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 74 C1857344
MedGen 42 C1857344
UMLS 73 C1857344

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

UniProtKB/Swiss-Prot : 75 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, Autosomal Recessive, also known as split-hand/foot malformation 1 with sensorineural hearing loss, is related to orofacial cleft and paranoid personality disorder. An important gene associated with Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 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 sensorineural hearing impairment and split hand

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,...

Diseases related to Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 orofacial cleft 9.8 DLX5 DLX6
2 paranoid personality disorder 9.7 DLX5 SEM1
3 split-hand/foot malformation 1 9.7 DLX5 SEM1
4 hemidystonia 9.7 KRIT1 SGCE
5 split-hand/foot malformation 6 9.7 DLX5 SEM1
6 split-hand/foot malformation 5 9.7 DLX5 SEM1
7 split-hand/foot malformation 3 9.6 DLX5 SEM1
8 rett syndrome 9.6 DLX5 DLX6
9 split hand-foot malformation 9.5 DLX5 SEM1
10 isolated split hand-split foot malformation 9.3 DLX5 DLX6 SEM1
11 split-hand/foot malformation 2 9.3 DLX5 DLX6 SEM1
12 rapp-hodgkin syndrome 9.2 DLX5 DLX6 SEM1
13 split-hand/foot malformation 4 9.2 DLX5 DLX6 SEM1

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



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

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

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature, severe (in some patients)

Skeletal Spine:
scoliosis, mild (rare)

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)

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

Head And Neck Ears:
sensorineural hearing loss

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

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


Clinical features from OMIM:

220600

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 split hand 32 HP:0001171
3 tapered finger 32 occasional (7.5%) HP:0001182
4 abnormality of the nail 32 occasional (7.5%) HP:0001597
5 split foot 32 HP:0001839
6 scoliosis 32 occasional (7.5%) HP:0002650
7 severe short stature 32 occasional (7.5%) HP:0003510

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

46
# 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, Autosomal Recessive

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, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss 29 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, Autosomal Recessive:

41
Bone

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

Articles related to Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive:

# Title Authors Year
1
A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia. ( 23168687 )
2013

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, Autosomal Recessive:

75
# 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, Autosomal Recessive:

6
# 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
2 DLX5 NM_005221.5(DLX5): c.533A> C (p.Gln178Pro) single nucleotide variant Pathogenic rs387906737 GRCh38 Chromosome 7, 97022192: 97022192

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, Autosomal Recessive.

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

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

# 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, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of canonical Wnt signaling pathway GO:0090263 9.46 DLX5 SEM1
2 roof of mouth development GO:0060021 9.43 DLX5 DLX6
3 epithelial cell differentiation GO:0030855 9.4 DLX5 DLX6
4 inner ear morphogenesis GO:0042472 9.37 DLX5 DLX6
5 positive regulation of epithelial cell proliferation GO:0050679 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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