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McKusick-Kaufman syndrome
1 OMIM reference -
1 associated gene
28 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
1 OMIM reference -
1 associated gene
13 signs/symptoms
McKusick-Kaufman syndrome
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

MKKS
(UniProt - OMIM)
 APP
(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
MKKS
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
APP



McKusick-Kaufman syndrome
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Synonym(s):
- Hydrometrocolpos - postaxial polydactyly
- Kaufman-Mckusick syndrome
Synonym(s):
- HCHWA, Piedmont type
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C538159
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Intellectual deficit / mental / psychomotor retardation / learning disability

McKusick-Kaufman syndrome
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

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
- 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


Very frequent
- Autosomal dominant inheritance
- Intracranial / cerebral / meningeal hemorrhage
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Psychic / psychomotor regression / dementia / intellectual decline
- Sensitive trouble / deficit
- Transient cerebral ischemia / stroke

Frequent
- Cerebral vascular anomalies
- Facial pain / cephalalgia / migraine
- Psychic / behavioural troubles

Occasional
- Early death / lethality