Term ID: 4057
Name: Mitten deformity
Synonym: Pseudosyndactyly
Definition: Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity.
Comments:
Reference: HP:0004057
Genes and Diseases: Child Nodes: Sister Nodes: ..Curved fingers (HP:0004095) ..Hand clenching (HP:0001188) ..Large hands (HP:0001176) ..Notched hand bones (HP:0004284) ..Overlapping fingers (HP:0010557) ..Overmodelled hand bones (HP:0004285) ..Pointed hand bones (HP:0004287) ..Short finger (HP:0009381) ..Undermodelled hand bones (HP:0004292) ..Valgus hand deformity (HP:0006228) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0004057 HP:0004057 Mitten deformity 0 COL17A1 CL E G H 1308 2194 ORPHA:251393 Localized junctional epidermolysis bullosa HP:0040284 - Very rare 129 HP:0004057 HP:0004057 Mitten deformity 0 COL7A1 CL E G H 1294 2214 ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0040283 - Occasional 263 HP:0004057 HP:0004057 Mitten deformity 0 COL7A1 CL E G H 1294 2214 ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0040281 - Very frequent 263 HP:0004057 HP:0004057 Mitten deformity 0 COL7A1 CL E G H 1294 2214 OMIM:226600 Epidermolysis bullosa dystrophica, autosomal recessive . 263 HP:0004057 HP:0004057 Mitten deformity 0 COL7A1 CL E G H 1294 2214 ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form HP:0040283 - Occasional 263 HP:0004057 HP:0004057 Mitten deformity 0 COL7A1 CL E G H 1294 2214 ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa HP:0040283 - Occasional 263 HP:0004057 HP:0004057 Mitten deformity 0 DSP CL E G H 1832 3052 OMIM:609638 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA 747 HP:0004057 HP:0004057 Mitten deformity 0 ITGB4 CL E G H 3691 6158 ORPHA:251393 Localized junctional epidermolysis bullosa HP:0040284 - Very rare 124 HP:0004057 HP:0004057 Mitten deformity 0 KRT5 CL E G H 3852 6442 OMIM:619599 EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D 173 HP:0004057 HP:0004057 Mitten deformity 0 LAMA3 CL E G H 3909 6483 ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0040283 - Occasional 116 HP:0004057 HP:0004057 Mitten deformity 0 LAMB3 CL E G H 3914 6490 ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0040283 - Occasional 167 HP:0004057 HP:0004057 Mitten deformity 0 LAMC2 CL E G H 3918 6493 ORPHA:79404 Severe generalized junctional epidermolysis bullosa HP:0040283 - Occasional 135 HP:0004057 HP:0004057 Mitten deformity 0 MMP1 CL E G H 4312 7155 ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0040281 - Very frequent 6 HP:0004057 HP:0004057 Mitten deformity 0 MMP1 CL E G H 4312 7155 OMIM:226600 Epidermolysis bullosa dystrophica, autosomal recessive . 6
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
