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2 OMIM references -
2 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
2 associated genes
6 signs/symptoms
Peripheral resistance to thyroid hormones
Marie Unna hereditary hypotrichosis

THRA EPS8L3
THRB HR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
THRA
(0.72)
HR



Citations in the biomedical literature:


Peripheral resistance to thyroid hormones
THRA THRB
Marie Unna hereditary hypotrichosis
EPS8L3 HR



Peripheral resistance to thyroid hormones
Marie Unna hereditary hypotrichosis

Synonym(s):
(no synonyms)

Synonym(s):
- Hypotrichosis, Marie Unna type
- MUHH
- Marie Unna congenital hypotrichosis

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C535912


COMMON
SIGNS
- Autosomal dominant inheritance


Peripheral resistance to thyroid hormones
Marie Unna hereditary hypotrichosis

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Coarse face
- Constipation
- Face / facial anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatitis / icterus / cholestasis
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Sleep and vigilance disorders
- Umbilical hernia



Very frequent
- Absent / decreased / thin eyebrows
- Alopecia
- Anomalies of eyelids, eyelashes and lacrimal system
- Coarse / thick hair
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness