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1 OMIM reference -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
39 signs/symptoms
Microform holoprosencephaly
Pallister-Hall syndrome

CDON GLI3
DISP1 TCF4
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ZIC2
(0.85)
GLI3



Citations in the biomedical literature:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Pallister-Hall syndrome
GLI3 TCF4



Microform holoprosencephaly
Pallister-Hall syndrome

Synonym(s):
- Microform HPE

Synonym(s):
- Hypothalamic hamartoblastoma syndrome

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare renal disease

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

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D054975

Pallister-Hall syndrome

Very frequent
- Autosomal dominant inheritance
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Intrauterine growth retardation
- Postaxial polydactyly (hand)

Frequent
- Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Cortico-adrenal hypoplasia / insufficiency
- Depressed nasal bridge
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Low set ears / posteriorly rotated ears
- Mesomelic micromelia
- Microglossia / aglossia / hypoglossia / tongue hypoplasia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Micropenis / small penis / agenesis
- Multicystic kidney / renal dysplasia
- Short / small nose
- Syndactyly of fingers / interdigital palm
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Abnormal vertebral size / shape
- Agenesis / hypoplasia / aplasia of kidneys
- Cardiac valvulopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Oral synechiae / abnormal frenulae
- Patent ductus arteriosus
- Postaxial polydactyly of toes / fifth supernumerary toe
- Precocious puberty
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly
- Stillbirth / neonatal death
- Syndactyly of toes
- Thyroid anomalies
- Ventricular septal defect / interventricular communication


Microform holoprosencephaly

(no data available)