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Pallister-Hall syndrome

1 OMIM reference -
2 associated genes
39 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7

1 OMIM reference -
1 associated gene
35 signs/symptoms

Pallister-Hall syndrome

Myhre syndrome

GLI3	(UniProt - OMIM)		SMAD4	(UniProt - OMIM)
TCF4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GLI3	(0.52)	SMAD4

Citations in the biomedical literature:

Pallister-Hall syndrome		Myhre syndrome
	Synonym(s): - Hypothalamic hamartoblastoma syndrome		Synonym(s): - Facial dysmorphism - intellectual deficit - short stature - hearing loss

	Classification (Orphanet): - Rare abdominal surgical disease - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Precocious puberty - Psychic / behavioural troubles - Short hand / brachydactyly - Undescended / ectopic testes / cryptorchidia / unfixed testes

Pallister-Hall syndrome		Myhre syndrome
	Very frequent - Autosomal dominant inheritance - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Postaxial polydactyly (hand) Frequent - Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration - 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 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 - Oral synechiae / abnormal frenulae - Patent ductus arteriosus - Postaxial polydactyly of toes / fifth supernumerary toe - Seizures / epilepsy / absences / spasms / status epilepticus - Stillbirth / neonatal death - Syndactyly of toes - Thyroid anomalies - Ventricular septal defect / interventricular communication		Very frequent - Anomalies of the ribs - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Hearing loss / hypoacusia / deafness - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Microstomia / little mouth - Mid-facial hypoplasia / short / small midface - Muscle hypertrophy - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Prognathism / prognathia - Restricted joint mobility / joint stiffness / ankylosis - Short philtrum - Short stature / dwarfism / nanism - Thin / retracted lips Frequent - Abnormal EMG / electromyogram / electropmyography - Blepharophimosis / short palpebral fissures - Cardiac septal defect - Chronic arterial hypertension - Epiphyseal anomaly - Hypermetropia - Metaphyseal anomaly - Ptosis - Thick skin / pachydermia / orange skin Occasional - Cataract / lens opacification - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Late puberty / hypogonadism / hypogenitalism - Lateral cleft lip / gingival cleft / paramedian nasal cleft