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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
10 OMIM references -
13 associated genes
45 signs/symptoms
Chronic respiratory distress with surfactant metabolism deficiency
Meckel syndrome

SFTPC B9D1
B9D2
CC2D2A
CEP290
IFT88
MKS1
RPGRIP1
RPGRIP1L
TCTN2
TMEM216
TMEM231
TMEM67
WDPCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SFTPC
(0.63)
TMEM67



Citations in the biomedical literature:


Chronic respiratory distress with surfactant metabolism deficiency
SFTPC
Meckel syndrome
B9D1 B9D2 CC2D2A CEP290 IFT88 MKS1
RPGRIP1 RPGRIP1L TCTN2 TMEM216 TMEM231 TMEM67
WDPCP



Chronic respiratory distress with surfactant metabolism deficiency
Meckel syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Meckel-Gruber syndrome

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

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

Meckel syndrome

Very frequent
- Autosomal recessive inheritance
- Congenital hepatic fibrosis
- Encephalocele / exencephaly
- Microcephaly
- Multicystic kidney / renal dysplasia
- Postaxial polydactyly (hand)
- Postaxial polydactyly of toes / fifth supernumerary toe
- Stillbirth / neonatal death

Frequent
- Ambiguous genitalia
- Aniridia / iris hypoplasia
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Broad cheeks / cherub-like / cherubin face
- Cataract / lens opacification
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flattened nose
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypertelorism
- Low set ears / posteriorly rotated ears
- Microcornea
- Micrognathia / retrognathia / micrognathism / retrognathism
- Oligoamnios
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinal / chorioretinal dysplasia / dystrophy
- Sclerocornea
- Sloping forehead
- Talipes-varus / metatarsal varus
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Anencephaly / acrania
- Asplenia / polysplenia / spleen lobulation / accessory spleen
- Bowed diaphysis / diaphyses / long bones
- Congenital cardiac anomaly / malformation / cardiopathy
- Congenital pancreatic cyst
- Corpus callosum / septum pellucidum total / partial agenesis
- Dandy-Walker anomaly
- Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus
- Fissured / scrotal tongue
- Hydrocephaly
- Male pseudohermaphrodism / lack of virilisation
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microglossia / aglossia / hypoglossia / tongue hypoplasia
- Pancreatic fibrosis
- Polycystic liver disease / hepatic cysts
- Preaxial polydactyly (hand)
- True hermaphrodism
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis


Chronic respiratory distress with surfactant metabolism deficiency

(no data available)