SFMMP
MCID: SPL059
MIFTS: 20

Split-Foot Malformation with Mesoaxial Polydactyly (SFMMP)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin 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 72 29 6 39
Sfmmp 57 58 72
Split-Foot Malformation-Mesoaxial Polydactyly-Nail Abnormalities-Sensorineural Hearing Loss Syndrome 58
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
split-foot malformation with mesoaxial polydactyly:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

OMIM® 57 616890
Orphanet 58 ORPHA488232
SNOMED-CT via HPO 68 258211005 60700002

Summaries for Split-Foot Malformation with Mesoaxial Polydactyly

UniProtKB/Swiss-Prot : 72 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, also known as sfmmp, is related to myopathy, centronuclear, 6, with fiber-type disproportion and split-hand/foot malformation 1. An important gene associated with Split-Foot Malformation with Mesoaxial Polydactyly is MAP3K20 (Mitogen-Activated Protein Kinase Kinase Kinase 20). Related phenotypes are sensorineural hearing impairment and cutaneous syndactyly

More information from OMIM: 616890

Related Diseases for Split-Foot Malformation with Mesoaxial Polydactyly

Diseases related to Split-Foot Malformation with Mesoaxial Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 4, show less)
# Related Disease Score Top Affiliating Genes
1 myopathy, centronuclear, 6, with fiber-type disproportion 9.7 MAP3K20-AS1 MAP3K20
2 split-hand/foot malformation 1 9.6 MAP3K20-AS1 MAP3K20
3 isolated split hand-split foot malformation 9.6 MAP3K20-AS1 MAP3K20
4 split hand-foot malformation 9.5 MAP3K20-AS1 MAP3K20

Symptoms & Phenotypes for Split-Foot Malformation with Mesoaxial Polydactyly

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

31 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 cutaneous syndactyly 31 HP:0012725

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
sensorineural hearing impairment

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

Skeletal Hands:
duplication of finger nail bed of fourth digit

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

Clinical features from OMIM®:

616890 (Updated 20-May-2021)

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

Genetic tests related to Split-Foot Malformation with Mesoaxial Polydactyly:

# Genetic test Affiliating Genes
1 Split-Foot Malformation with Mesoaxial Polydactyly 29 MAP3K20

Anatomical Context for Split-Foot Malformation with Mesoaxial Polydactyly

Publications for Split-Foot Malformation with Mesoaxial Polydactyly

Articles related to Split-Foot Malformation with Mesoaxial Polydactyly:

(showing 1, show less)
# Title Authors PMID Year
1
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. 6 57
26755636 2016

Variations for Split-Foot Malformation with Mesoaxial Polydactyly

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

6 (showing 3, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAP3K20-AS1 , MAP3K20 NM_016653.3(MAP3K20):c.1103T>G (p.Phe368Cys) SNV Pathogenic 218144 rs863225437 GRCh37: 2:174097087-174097087
GRCh38: 2:173232359-173232359
2 MAP3K20-AS1 , MAP3K20 NM_016653.2(MAP3K20):c.988-4814_1359+60del Deletion Pathogenic 224905 GRCh37: 2:174089603-174104284
GRCh38: 2:173224875-173239556
3 MAP3K20-AS1 , MAP3K20 NM_016653.3(MAP3K20):c.817T>C (p.Cys273Arg) SNV Uncertain significance 1030576 GRCh37: 2:174074529-174074529
GRCh38: 2:173209801-173209801

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

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 MAP3K20 p.Phe368Cys VAR_076448 rs863225437

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 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....