ODCs

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Goldberg-Shprintzen megacolon syndrome

1 OMIM reference -
1 associated gene
23 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 11

Dubowitz syndrome

1 OMIM reference -
1 associated gene
79 signs/symptoms

Goldberg-Shprintzen megacolon syndrome

Dubowitz syndrome

KIAA1279

(UniProt - OMIM)

NSUN2

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KIAA1279	(0.63)	NSUN2

Citations in the biomedical literature:

Goldberg-Shprintzen megacolon syndrome		Dubowitz syndrome
	Synonym(s): - GOSHS - Megacolon - microcephaly		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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 recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537279		External references: 1 OMIM reference - 1 MeSH reference: C535718


COMMON SIGNS	- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Corpus callosum / septum pellucidum total / partial agenesis - Hypertelorism - Hypospadias / epispadias / bent penis - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Sloping forehead

Goldberg-Shprintzen megacolon syndrome		Dubowitz syndrome
	Very frequent - Autosomal dominant inheritance - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease Frequent - Coloboma of iris - Hypotonia Occasional - Absent / decreased / thin eyebrows - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Broad nasal root - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Dilated cerebral ventricles without hydrocephaly - Long / large ear - Pointed chin - Syndactyly of fingers / interdigital palm		Very frequent - Autosomal recessive inheritance - Broad / bifid thumb - Flat supraorbital ridge - Intrauterine growth retardation - Telecanthus / canthal dystopy - Thumb hypoplasia / aplasia / absence Frequent - Antihelix anomaly - Blepharophimosis / short palpebral fissures - Clinodactyly of fifth finger - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Delayed bone age - Depressed nasal bridge - Eczema - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - Fine hair - Hearing loss / hypoacusia / deafness - Hyperactivity / attention deficit - Immunodeficiency / increased susceptibility to infections / recurrent infections - Large fontanelle / delayed fontanelle closure - Lateral thinning of eyebrows - Low hair line-front - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow face - Prominent / bat ears - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Small foot - Small hand / acromicria - Undescended / ectopic testes / cryptorchidia / unfixed testes - Wide space between 1st-2nd toes Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormal pigmentary skin changes / skin pigmentation anomalies - Anaemia - Anus / rectum anomalies - Asthma / bronchospasm - Cataract / lens opacification - Congenital cardiac anomaly / malformation / cardiopathy - Craniostenosis / craniosynostosis / sutural synostosis - Cutis marmorata / marbled skin / livedo - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dry / squaly skin / exfoliation - Hematologic / blood / lymphatic cancer - High vaulted / narrow palate - Hydrocephaly - Hyperextensible joints / articular hyperlaxity - Hypoparathyroidy - Lymphoma - Macrostomia / big mouth - Malabsorption / chronic diarrhea / steatorrhea - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Metatarsus adductus - Myopia - Neoplasms / tumors - Nystagmus - Pectus excavatum - Polynuclear cells / neutrophils anomalies / neutropenia - Sacral sinus / dimple - Scoliosis - Short hand / brachydactyly - Skin photosensitivity - Spina bifida occulta - Strabismus / squint - Syndactyly of toes - Talipes-varus / metatarsal varus - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails - Thrombocytopenia / thrombopenia