Isolated split hand-split foot malformation

ORPHA:2440Malformation syndromeAutosomal dominant, Autosomal recessive, X-linked recessiveInfancy, Neonatal

Ассоциированные гены8

Ген	Полное название	Тип связи	Тип гена	OMIM
DLX6	distal-less homeobox 6	Disease-causing germline mutation(s) in	gene with protein product	600030
EPS15L1	epidermal growth factor receptor pathway substrate 15 like 1	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	616826
TP63	tumor protein p63	Disease-causing germline mutation(s) in	gene with protein product	603273
SEM1	SEM1 26S proteasome subunit	Candidate gene tested in	gene with protein product	601285
WNT10B	Wnt family member 10B	Disease-causing germline mutation(s) in	gene with protein product	601906
DLX5	distal-less homeobox 5	Disease-causing germline mutation(s) in	gene with protein product	600028
BTRC	beta-transducin repeat containing E3 ubiquitin protein ligase	Candidate gene tested in	gene with protein product	603482
FBXW4	F-box and WD repeat domain containing 4	Role in the phenotype of	gene with protein product	608071

Очень частый (80–99%)1

HP:0012165Oligodactyly

Частый (30–79%)3

HP:0001839Split foot

HP:0004058Hand monodactyly

HP:0006101Finger syndactyly

Периодический (5–29%)4

HP:0000407Sensorineural hearing impairment

HP:0000526Aniridia

HP:0001171Split hand

HP:0004050Absent hand

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Prevalence at birth	1-9 / 100 000	5.4	Europe	Value and class
Prevalence at birth	1-5 / 10 000	16.4	China	Value and class
Prevalence at birth	1-9 / 100 000	5.1	Canada	Value and class
Prevalence at birth	1-9 / 100 000	6	Hungary	Value and class
Prevalence at birth	1-9 / 100 000	6	United States	Value and class
Point prevalence	1-9 / 100 000	—	Europe	Class only

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)