ODCs

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Split hand-split foot malformation

6 OMIM references -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Peutz-Jeghers syndrome

1 OMIM reference -
1 associated gene
32 signs/symptoms

Split hand-split foot malformation

Peutz-Jeghers syndrome

BTRC	(UniProt - OMIM)	STK11	(UniProt - OMIM)
FBXW4	(UniProt - OMIM)
SHFM1	(UniProt - OMIM)
TP63	(UniProt - OMIM)
WNT10B	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP63	(0.63)	STK11

Citations in the biomedical literature:

Split hand-split foot malformation		Peutz-Jeghers syndrome
	Synonym(s): - Ectrodactyly - Lobster-claw deformity - SHFM - Split hand foot malformation		Synonym(s): - Hamartomatous intestinal polyposis - PJS - Polyps and spots syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adolescence / young Average age of death: adult Type of inheritance: autosomal dominant

	External references: 6 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D010580


COMMON SIGNS	- Autosomal dominant inheritance

Split hand-split foot malformation		Peutz-Jeghers syndrome
	Very frequent - Oligodactyly / ectrodactyly of fingers Frequent - Syndactyly of fingers / interdigital palm Occasional - Aniridia / iris hypoplasia - Autosomal recessive inheritance - Hand agenesis / absence - Sensorineural deafness / hearing loss - Trident hand / split hand / abnormal median ray - X-linked recessive inheritance		Very frequent - Abnormal pigmentation of the oral mucosa / gingivae - Digestive neoplasm / tumor / carcinoma / cancer - Macules - Pigmented naevi / naevus pigmentosus / lentigo Frequent - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia Occasional - Abnormal nails colour / leukonychia / melanonychia - Acute abdominal pain / colic - Anaemia - Anus / rectum anomalies - Bladder and ureter anomalies - Breast neoplasm / tumor / carcinoma / cancer - Colon neoplasm / tumor / carcinoma / cancer - Esophageal neoplasm / tumor / carcinoma / cancer - Estomach / gastric neoplasm / tumor / carcinoma / cancer - Extrahepatic biliary tract / gallbladder neoplasm / tumor / carcinoma / cancer - Head and neck neoplasm / tumor / carcinoma / cancer - Intestinal obstruction / ileus - Kidney / renal neoplasm / tumor / carcinoma / cancer - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Mesenteric / intestinal infarction - Nasal polyposis - Nausea / vomiting / regurgitation / merycism / hyperemesis - Neoplasms / tumors - Nose / nasal sinus neoplasm / tumor / carcinoma / cancer - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer - Rectum / rectal neoplasm / tumor / carcinoma / cancer - Small bowel neoplasm / tumor / carcinoma / cancer - Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Ureteral / urethral / vesical / bladder neoplasm / tumor / carcinoma / cancer - Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer