Cytoscape Web
Click node...

Athyreosis
2 OMIM references -
6 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
Monosomy 13q14
1 OMIM reference -
1 associated gene
31 signs/symptoms
Athyreosis
Monosomy 13q14

FOXE1
(UniProt - OMIM)
 RB1
(UniProt - OMIM)
NKX2-1
(UniProt - OMIM)
NKX2-5
(UniProt - OMIM)
PAX8
(UniProt - OMIM)
SLC26A4
(UniProt - OMIM)
TSHR
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PAX8
(0.63)
RB1


Citations in the biomedical literature:


Athyreosis
FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TSHR

Monosomy 13q14
RB1



Athyreosis
Monosomy 13q14

Synonym(s):
(no synonyms)

Synonym(s):
- Del(13)(q14)
- Deletion 13q14 syndrome
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism

Athyreosis
Monosomy 13q14

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Asthenia / fatigue / weakness
- Coarse face
- Constipation
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Face / facial anomalies
- Hypothyroidy
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Muscle weakness / flaccidity
- Sleep and vigilance disorders



Very frequent
- Broad nose / nasal bridge
- Helix thickened / sculpted
- High nasal bridge
- Hypertelorism
- Intrauterine growth retardation
- Microcephaly
- Total / partial trisomy / duplication

Frequent
- Abnormal dermatoglyphics
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cataract / lens opacification
- Clinodactyly of fifth finger
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Epicanthic folds
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent / bat ears
- Ptosis
- Retinoblastoma
- Short hand / brachydactyly
- Short neck
- Syndactyly of fingers / interdigital palm
- Trigonocephaly

Occasional
- Anus / rectum anomalies
- Corpus callosum / septum pellucidum total / partial agenesis
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Thumb hypoplasia / aplasia / absence
- Webbed neck / pterygium colli