ODCs

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McKusick-Kaufman syndrome

1 OMIM reference -
1 associated gene
28 signs/symptoms

PROTEIN INTERACTIONS: 1

Early-onset autosomal dominant Alzheimer disease

16 OMIM references -
4 associated genes
No signs/symptoms info

McKusick-Kaufman syndrome

Early-onset autosomal dominant Alzheimer disease

MKKS	(UniProt - OMIM)	APP	(UniProt - OMIM)
		PSEN1	(UniProt - OMIM)
		PSEN2	(UniProt - OMIM)
		SORL1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MKKS	(0.56)	APP

Citations in the biomedical literature:

McKusick-Kaufman syndrome		Early-onset autosomal dominant Alzheimer disease
	Synonym(s): - Hydrometrocolpos - postaxial polydactyly - Kaufman-Mckusick syndrome		Synonym(s): - EOFAD - Early-onset familial autosomal dominant Alzheimer disease - Familial Alzheimer disease

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C538159		External references: 16 OMIM references - No MeSH references

McKusick-Kaufman syndrome
	Very frequent - Autosomal recessive inheritance - Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation Frequent - Hypospadias / epispadias / bent penis - Postaxial polydactyly (hand) - Undescended / ectopic testes / cryptorchidia / unfixed testes - Urogenital sinus Occasional - Agenesis / hypoplasia / aplasia of kidneys - Anus ectopia / anteposition / malposition - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Failure to thrive / difficulties for feeding in infancy / growth delay - High vaulted / narrow palate - Hypoplastic left heart / ventricle - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intellectual deficit / mental / psychomotor retardation / learning disability - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Metacarpal anomalies / Archibald's sign - Multicystic kidney / renal dysplasia - Patent ductus arteriosus - Postaxial polydactyly of toes / fifth supernumerary toe - Short hand / brachydactyly - Short stature / dwarfism / nanism - Syndactyly of fingers / interdigital palm - Tarsal anomaly / fusion / synostosis - Tetralogy of Fallot / trilogy of Fallot - Urethral anomalies / stenosis / posterior urethral valves / megalocystis - Ventricular septal defect / interventricular communication
Early-onset autosomal dominant Alzheimer disease
(no data available)