SHFM1D
MCID: SPL068
MIFTS: 33

Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive (SHFM1D)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic 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 72
Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss 57 29 13 6
Shfm1d 57 12 72
Split Hand-Foot Malformation 1 with Sensorineural Hearing Loss 12 15
Split-Hand/foot Malformation, Type 1 with Sensorineural Hearing Loss 39
Split-Hand-Foot Malformation with Sensorineural Hearing Loss 70
Deafness, Congenital, with Split Hands and Feet 57
Congenital Deafness with Split Hands and Feet 12
Congenital Deafness and Split Hands and Feet 72
Split Hand-Split Foot-Hearing Loss Syndrome 58
Split Hand-Split Foot-Deafness Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0090024
OMIM® 57 220600
OMIM Phenotypic Series 57 PS183600
ICD10 32 Q87.2
ICD10 via Orphanet 33 Q87.2
UMLS via Orphanet 71 C1857344
Orphanet 58 ORPHA71271
MedGen 41 C1857344
UMLS 70 C1857344

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

UniProtKB/Swiss-Prot : 72 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 citrullinemia, type ii, neonatal-onset and split-hand/foot malformation 1. An important gene associated with Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive is DLX5 (Distal-Less Homeobox 5). Related phenotypes are scoliosis and abnormality of the nail

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.

More information from OMIM: 220600 PS183600

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 26)
# Related Disease Score Top Affiliating Genes
1 citrullinemia, type ii, neonatal-onset 10.1 SLC25A13 SEM1
2 split-hand/foot malformation 1 10.1 TP63 SEM1 DLX5
3 paranoid personality disorder 10.1 SGCE SEM1 DYNC1I1
4 orofacial cleft 8 10.0 TP63 DLX6 DLX5
5 rapp-hodgkin syndrome 10.0 TP63 DLX6 DLX5
6 syngnathia 9.9 FGF8 DLX6
7 agnathia-otocephaly complex 9.9 FGF8 DLX6 DLX5
8 metacarpal 4-5 fusion 9.8 FGF8 BHLHA9
9 cleft lip/palate-ectodermal dysplasia syndrome 9.7 TP63 FGF8
10 bone development disease 9.7 FGF8 DLX5 COL1A2
11 lacrimoauriculodentodigital syndrome 9.7 FGF8 FBXW4 BHLHA9
12 orofacial cleft 9.7 TP63 FGF8 DLX6 DLX5
13 split-hand/foot malformation 3 9.7 SEM1 FBXW4 DLX6 DLX5 BHLHA9
14 chromosomal duplication syndrome 9.7 FGF8 FBXW4 BHLHA9
15 orofacial cleft 4 9.6 WNT10B TP63 SEM1 DLX6
16 cleft palate, isolated 9.6 TP63 FGF8 DLX6 DLX5
17 split-hand/foot malformation 5 9.5 TP63 SEM1 FBXW4 DLX6 DLX5 BHLHA9
18 isolated split hand-split foot malformation 9.5 WNT10B TP63 SEM1 DLX6 DLX5
19 odontochondrodysplasia 9.4 FGF8 DLX5 COL1A2
20 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 9.2 WNT10B TP63 DYNC1I1 DLX6 DLX5 BHLHA9
21 tooth agenesis 9.1 WNT10B TP63 FGF8 DLX5 COL1A2
22 split-hand/foot malformation 2 9.0 WNT10B TP63 SEM1 FBXW4 DLX6 DLX5
23 split-hand/foot malformation 6 9.0 WNT10B TP63 SEM1 FBXW4 DLX6 DLX5
24 split hand-foot malformation 9.0 WNT10B TP63 SEM1 FBXW4 DLX6 DLX5
25 split-hand/foot malformation 4 8.9 WNT10B TP63 SEM1 FBXW4 DYNC1I1 DLX6
26 chromosome 2q35 duplication syndrome 8.7 WNT10B TP63 SEM1 FGF8 FBXW4 DLX6

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,...

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 abnormality of the nail 31 occasional (7.5%) HP:0001597
3 tapered finger 31 occasional (7.5%) HP:0001182
4 severe short stature 31 occasional (7.5%) HP:0003510
5 sensorineural hearing impairment 31 HP:0000407
6 split hand 31 HP:0001171
7 split foot 31 HP:0001839

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Hands:
split hand
ectrodactyly
tapered fingers (in some patients)
dorsalization of palms (in some patients)
restriction of flexion at all metacarpophalangeal and interphalangeal joints (in some patients)

Head And Neck Ears:
sensorineural hearing loss

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 (Updated 05-Apr-2021)

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 embryo MP:0005380 9.87 DLX5 DLX6 FBXW4 FGF8 KRIT1 ODC1
2 limbs/digits/tail MP:0005371 9.76 BHLHA9 COL1A2 DLX5 DLX6 FBXW4 FGF8
3 hearing/vestibular/ear MP:0005377 9.65 DLX5 DLX6 FGF8 KRIT1 SLC25A13
4 muscle MP:0005369 9.5 COL1A2 DLX5 FGF8 KRIT1 SGCE TP63
5 nervous system MP:0003631 9.28 BHLHA9 COL1A2 DLX5 DLX6 FGF8 KRIT1

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,...

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 PMID Year
1
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. 57 6
22121204 2012
2
Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. 61
17898012 2007

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DLX5 NM_005221.6(DLX5):c.533A>C (p.Gln178Pro) SNV Pathogenic 30021 rs387906737 GRCh37: 7:96651504-96651504
GRCh38: 7:97022192-97022192

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

72
# Symbol AA change Variation ID SNP ID
1 DLX5 p.Gln178Pro VAR_067413 rs387906737

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,...

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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.7 WNT10B TP63 FGF8 FBXW4 DLX6 DLX5
2 positive regulation of canonical Wnt signaling pathway GO:0090263 9.65 WNT10B SEM1 DLX5
3 skeletal system development GO:0001501 9.56 TP63 DLX6 DLX5 COL1A2
4 epithelial cell differentiation GO:0030855 9.54 TP63 DLX6 DLX5
5 odontogenesis GO:0042476 9.52 FGF8 COL1A2
6 developmental process GO:0032502 9.51 TP63 BHLHA9
7 inner ear morphogenesis GO:0042472 9.5 FGF8 DLX6 DLX5
8 embryonic hindlimb morphogenesis GO:0035116 9.49 TP63 FGF8
9 head development GO:0060322 9.46 DLX6 DLX5
10 embryo development GO:0009790 9.43 DLX6 DLX5
11 skin morphogenesis GO:0043589 9.4 TP63 COL1A2
12 anatomical structure formation involved in morphogenesis GO:0048646 9.13 TP63 DLX6 DLX5
13 embryonic limb morphogenesis GO:0030326 8.92 TP63 FBXW4 DLX6 DLX5

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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