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1 OMIM reference -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
28 signs/symptoms
Microform holoprosencephaly
McKusick-Kaufman syndrome

CDON MKKS
DISP1
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TGIF1
(0.72)
MKKS



Citations in the biomedical literature:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
McKusick-Kaufman syndrome
MKKS



Microform holoprosencephaly
McKusick-Kaufman syndrome

Synonym(s):
- Microform HPE

Synonym(s):
- Hydrometrocolpos - postaxial polydactyly
- Kaufman-Mckusick syndrome

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic 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: adult
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

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

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


Microform holoprosencephaly

(no data available)