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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
6 OMIM references -
5 associated genes
9 signs/symptoms
Short stature due to partial GHR deficiency
Split hand-split foot malformation

GHR BTRC
FBXW4
SHFM1
TP63
WNT10B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GHR
(0.88)
BTRC



Citations in the biomedical literature:


Short stature due to partial GHR deficiency
GHR
Split hand-split foot malformation
BTRC FBXW4 SHFM1 TP63 WNT10B



Short stature due to partial GHR deficiency
Split hand-split foot malformation

Synonym(s):
- Short stature due to partial growth hormone receptor deficiency

Synonym(s):
- Ectrodactyly
- Lobster-claw deformity
- SHFM
- Split hand foot malformation

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
6 OMIM references -
No MeSH references

Split hand-split foot malformation

Very frequent
- Autosomal dominant inheritance
- Oligodactyly / ectrodactyly of fingers

Frequent
- Syndactyly of fingers / interdigital palm

Occasional
- Aniridia / iris hypoplasia
- Autosomal recessive inheritance
- Hand agenesis / absence
- Sensorineural deafness / hearing loss
- Trident hand / split hand / abnormal median ray
- X-linked recessive inheritance


Short stature due to partial GHR deficiency

(no data available)