SHFM6
MCID: SPL033
MIFTS: 35
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Split-Hand/foot Malformation 6 (SHFM6)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Split-Hand/foot Malformation 6:
Characteristics:HPO:32
split-hand/foot malformation 6:
Onset and clinical course incomplete penetrance Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Neuronal diseases Mental diseases Ear diseases
ICD10:
33
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OMIM
:
57
Split-hand/split-foot malformation (SHFM) 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 with SHFM have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformations, see SHFM1 (183600). (225300)
MalaCards based summary : Split-Hand/foot Malformation 6, also known as shfm6, is related to split-hand/foot malformation 1 and split hand-foot malformation. An important gene associated with Split-Hand/foot Malformation 6 is WNT10B (Wnt Family Member 10B), and among its related pathways/superpathways are Signaling by Wnt and Wnt Signaling Pathway and Pluripotency. Affiliated tissues include bone, and related phenotypes are finger syndactyly and split hand Disease Ontology : 12 A split-hand/foot malformation that has material basis in homozygous mutation in the WNT10B gene on chromosome 12q13. UniProtKB/Swiss-Prot : 75 Split-hand/foot malformation 6: 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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:225300Human phenotypes related to Split-Hand/foot Malformation 6:32 (show all 6)
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MalaCards organs/tissues related to Split-Hand/foot Malformation 6:41
Bone
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UniProtKB/Swiss-Prot genetic disease variations for Split-Hand/foot Malformation 6:75
ClinVar genetic disease variations for Split-Hand/foot Malformation 6:6
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Search
GEO
for disease gene expression data for Split-Hand/foot Malformation 6.
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Pathways related to Split-Hand/foot Malformation 6 according to GeneCards Suite gene sharing:
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Cellular components related to Split-Hand/foot Malformation 6 according to GeneCards Suite gene sharing:
Biological processes related to Split-Hand/foot Malformation 6 according to GeneCards Suite gene sharing:
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