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Acromesomelic dysplasia, Grebe type
1 OMIM reference -
1 associated gene
18 signs/symptoms
PROTEIN INTERACTIONS: 1
Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
Acromesomelic dysplasia, Grebe type
Heritable pulmonary arterial hypertension

GDF5
(UniProt - OMIM)
 ACVRL1
(UniProt - OMIM)
BMPR2
(UniProt - OMIM)
CAV1
(UniProt - OMIM)
CBLN2
(UniProt - OMIM)
KCNK3
(UniProt - OMIM)
SMAD9
(UniProt - OMIM)
TBX4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
GDF5
(0.88)
BMPR2


Citations in the biomedical literature:


Acromesomelic dysplasia, Grebe type
GDF5
Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4



Acromesomelic dysplasia, Grebe type
Heritable pulmonary arterial hypertension

Synonym(s):
- Chondrodysplasia, Grebe type
Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
Acromesomelic dysplasia, Grebe type

Very frequent
- Aphalangia / hands and feet phalangeal bones absence / hypoplasia / aplasia
- Autosomal recessive inheritance
- Bowed diaphysis / diaphyses / long bones
- Carpal bones fusion / synostosis
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Metacarpal anomalies / Archibald's sign
- Restricted joint mobility / joint stiffness / ankylosis
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism
- Tarsal anomaly / fusion / synostosis

Frequent
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Postaxial polydactyly (hand)
- Thumb hypoplasia / aplasia / absence
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly

Occasional
- Death in infancy
- Stillbirth / neonatal death


Heritable pulmonary arterial hypertension

(no data available)