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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
10 OMIM references -
13 associated genes
45 signs/symptoms
Infant acute respiratory distress syndrome
Meckel syndrome

SFTPB B9D1
SFTPC 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:


Infant acute respiratory distress syndrome
SFTPB SFTPC
Meckel syndrome
B9D1 B9D2 CC2D2A CEP290 IFT88 MKS1
RPGRIP1 RPGRIP1L TCTN2 TMEM216 TMEM231 TMEM67
WDPCP



Infant acute respiratory distress syndrome
Meckel syndrome

Synonym(s):
- Hyaline membrane disease
- Infant ARDS
- Infant respiratory distress syndrome
- Neonatal respiratory distress syndrome

Synonym(s):
- Meckel-Gruber syndrome

Classification (Orphanet):
- 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):
- Certain conditions originating in the perinatal period -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
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


Infant acute respiratory distress syndrome

(no data available)