Autoimmune disease, multisystem, with facial dysmorphism

Preferred Label : Autoimmune disease, multisystem, with facial dysmorphism;

Symbol : ADMFD;

CISMeF acronym : ADMFD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the mouse itchy gene (ITCH, 606409.0001);

Prefixed ID : #613385;

Details

Origin ID

613385;

UMLS CUI

C3150649;

Automatic exact mappings (from CISMeF team)
- ITCH wt Allele [NCIt concept]
- Syndromic multisystem autoimmune disease due to Itch deficiency [ORDO Disease]
Genes related to phenotype
- Itchy e3 ubiquitin protein ligase [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Autoimmunity [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Choanal atresia [HPO term]
- Chronic diarrhea [HPO term]
- Chronic lung disease [HPO term]
- Clinodactyly [HPO term]
- Convex nasal ridge [HPO term]
- Decreased circulating IgA level [HPO term]
- Delayed skeletal maturation [HPO term]
- Dolichocephaly [HPO term]
- Failure to thrive in infancy [HPO term]
- Feeding difficulties in infancy [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Gastrostomy tube feeding in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hallux valgus [HPO term]
- Hashimoto thyroiditis [HPO term]
- Hepatitis [HPO term]
- Hepatomegaly [HPO term]
- Hypersplenism [HPO term]
- Hypertelorism [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Increased vertebral height [HPO term]
- Limited elbow extension [HPO term]
- Low hanging columella [HPO term]
- Low-set ears [HPO term]
- Lumbar hyperlordosis [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Pancytopenia [HPO term]
- Pectus excavatum [HPO term]
- Portal hypertension [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent occiput [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Recurrent respiratory infections [HPO term]
- Reduced forced expiratory volume in one second [HPO term]
- Relative macrocephaly [HPO term]
- Short chin [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Slender long bone [HPO term]
- Splenomegaly [HPO term]
- Thoracic kyphoscoliosis [HPO term]
- Type I diabetes mellitus [HPO term]
ORDO concept(s)
- Syndromic multisystem autoimmune disease due to Itch deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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