Orofaciodigital syndrome I

Preferred Label : Orofaciodigital syndrome I;

Symbol : OFD1;

CISMeF acronym : OFD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oral-facial-digital syndrome, type I; Papillon-leage and psaume syndrome; Ofds I;

Description : Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males (Ferrante et al., 2001). Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I. Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the OFD1 protein gene (OFD1, 300170.0001);

Laboratory abnormalities : Abnormal liver enzymes in those with hepatic cysts or fibrosis; Proteinuria in those with cystic kidneys;

Prefixed ID : #311200;

Details

Origin ID

311200;

UMLS CUI

C1510460;

Currated CISMeF NLP mapping
- Oral-facial-digital syndrome type 1 [ICD-11 More detail]
- Oro-facial digital syndrome type 1 (disorder) [SNOMED CT concept]
- Orofaciodigital Syndrome Type 1 [NCIt concept]
- Orofaciodigital syndrome [PASCAL descriptor]
- Orofaciodigital syndrome [ORDO Disease]
- Orofaciodigital syndrome type 1 [ORDO Disease]
- Orofaciodigital syndrome type1 [MeSH concept]
- Papillon-Leage and psaume syndrome [MeSH concept]
- oral-facial-digital syndrome [SNOMED Notion]
- orofaciodigital syndrome [DO Concept]
- orofaciodigital syndrome I [DO Concept]
- orofaciodigital syndrome type 1 [Disease (Nov.)]
- orofaciodigital syndrome type1 [MeSH Supplementary Concept]
DO Cross reference
- orofaciodigital syndrome I [DO Concept]
Genes related to phenotype
- Ofd1 centriole and centriolar satellite protein [OMIM gene]
HPO term(s)
- Abnormal cortical gyration [HPO term]
- Abnormal heart morphology [HPO term]
- Agenesis of corpus callosum [HPO term]
- Agenesis of permanent teeth [HPO term]
- Alopecia [HPO term]
- Alveolar ridge overgrowth [HPO term]
- Ankyloglossia [HPO term]
- Arachnoid cyst [HPO term]
- Bifid tongue [HPO term]
- Brachydactyly [HPO term]
- Carious teeth [HPO term]
- Cerebellar cyst [HPO term]
- Cerebral atrophy [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly [HPO term]
- Congenital onset [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dry hair [HPO term]
- Enamel hypoplasia [HPO term]
- Epicanthus [HPO term]
- Facial asymmetry [HPO term]
- Frontal bossing [HPO term]
- Gray matter heterotopia [HPO term]
- Hamartoma of tongue [HPO term]
- Hearing impairment [HPO term]
- Hepatic cysts [HPO term]
- Hepatic fibrosis [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypertension [HPO term]
- Hypothalamic hamartoma [HPO term]
- Intellectual disability [HPO term]
- Lobulated tongue [HPO term]
- Low-set ears [HPO term]
- Median cleft lip [HPO term]
- Microcephaly [HPO term]
- Microretrognathia [HPO term]
- Milia [HPO term]
- Myelomeningocele [HPO term]
- Ovarian cyst [HPO term]
- Pancreatic cysts [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Polydactyly [HPO term]
- Porencephalic cyst [HPO term]
- Pre- or postaxial polydactyly [HPO term]
- Proteinuria [HPO term]
- Radial deviation of finger [HPO term]
- Seizure [HPO term]
- Short 2nd toe [HPO term]
- Short stature [HPO term]
- Sparse hair [HPO term]
- Supernumerary tooth [HPO term]
- Syndactyly [HPO term]
- Telecanthus [HPO term]
- Tongue nodules [HPO term]
- Underdeveloped nasal alae [HPO term]
- Vascular dilatation [HPO term]
- Wide nasal bridge [HPO term]
- X-linked dominant inheritance [HPO term]
- obsolete Gray matter heterotopias [HPO term]
ORDO concept(s)
- Orofaciodigital syndrome type 1 [ORDO Disease]
See also inter- (CISMeF)
- OFD1 Gene [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oral-facial-digital syndrome (disorder) [SNOMED CT concept]
- Oro-facial digital syndrome type 1 (disorder) [SNOMED CT concept]
- Orofaciodigital Syndrome Type 1 [NCIt concept]
- Papillon-Leage and psaume syndrome [MeSH concept]
- oral-facial-digital syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Oral-facial-digital syndrome (disorder) [SNOMED CT concept]
- orofaciodigital syndromes [MeSH concept]
- orofaciodigital syndromes [MeSH Descriptor]

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