MCID: SPL059
MIFTS: 17

Split-Foot Malformation with Mesoaxial Polydactyly

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

Aliases & Classifications for Split-Foot Malformation with Mesoaxial Polydactyly

MalaCards integrated aliases for Split-Foot Malformation with Mesoaxial Polydactyly:

Name: Split-Foot Malformation with Mesoaxial Polydactyly 57 75 6
Sfmmp 57 59 75
Split-Foot Malformation-Mesoaxial Polydactyly-Nail Abnormalities-Sensorineural Hearing Loss Syndrome 59
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation


HPO:

32
split-foot malformation with mesoaxial polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616890
Orphanet 59 ORPHA488232
SNOMED-CT via HPO 69 258211005 60700002

Summaries for Split-Foot Malformation with Mesoaxial Polydactyly

UniProtKB/Swiss-Prot : 75 Split-foot malformation with mesoaxial polydactyly: An autosomal recessive disorder characterized by a split-foot defect, mesoaxial polydactyly, nail abnormalities of the hands, and sensorineural hearing loss.

MalaCards based summary : Split-Foot Malformation with Mesoaxial Polydactyly, is also known as sfmmp. An important gene associated with Split-Foot Malformation with Mesoaxial Polydactyly is MAP3K20 (Mitogen-Activated Protein Kinase Kinase Kinase 20). Affiliated tissues include skin and bone, and related phenotype is sensorineural hearing impairment.

Description from OMIM: 616890

Related Diseases for Split-Foot Malformation with Mesoaxial Polydactyly

Symptoms & Phenotypes for Split-Foot Malformation with Mesoaxial Polydactyly

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
sensorineural hearing impairment

Skeletal Feet:
split-foot malformation with absent third toe
partial duplication of second toe
cutaneous syndactyly of digits 1 and 2
cutaneous syndactyly of digits 4 and 5

Skeletal Hands:
duplication of finger nail bed of fourth digit

Skin Nails Hair Nails:
duplication of finger nail bed of fourth digit


Clinical features from OMIM:

616890

Human phenotypes related to Split-Foot Malformation with Mesoaxial Polydactyly:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

Drugs & Therapeutics for Split-Foot Malformation with Mesoaxial Polydactyly

Search Clinical Trials , NIH Clinical Center for Split-Foot Malformation with Mesoaxial Polydactyly

Genetic Tests for Split-Foot Malformation with Mesoaxial Polydactyly

Anatomical Context for Split-Foot Malformation with Mesoaxial Polydactyly

MalaCards organs/tissues related to Split-Foot Malformation with Mesoaxial Polydactyly:

41
Skin, Bone

Publications for Split-Foot Malformation with Mesoaxial Polydactyly

Variations for Split-Foot Malformation with Mesoaxial Polydactyly

UniProtKB/Swiss-Prot genetic disease variations for Split-Foot Malformation with Mesoaxial Polydactyly:

75
# Symbol AA change Variation ID SNP ID
1 MAP3K20 p.Phe368Cys VAR_076448 rs863225437

ClinVar genetic disease variations for Split-Foot Malformation with Mesoaxial Polydactyly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAP3K20 NM_016653.2(MAP3K20): c.1103T> G (p.Phe368Cys) single nucleotide variant Pathogenic rs863225437 GRCh37 Chromosome 2, 174097087: 174097087
2 MAP3K20 NM_016653.2(MAP3K20): c.1103T> G (p.Phe368Cys) single nucleotide variant Pathogenic rs863225437 GRCh38 Chromosome 2, 173232359: 173232359
3 MAP3K20 NM_016653.2(MAP3K20): c.988-4814_1359+60del deletion Pathogenic GRCh38 Chromosome 2, 173224875: 173239556

Expression for Split-Foot Malformation with Mesoaxial Polydactyly

Search GEO for disease gene expression data for Split-Foot Malformation with Mesoaxial Polydactyly.

Pathways for Split-Foot Malformation with Mesoaxial Polydactyly

GO Terms for Split-Foot Malformation with Mesoaxial Polydactyly

Sources for Split-Foot Malformation with Mesoaxial Polydactyly

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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