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Boomerang dysplasia
1 OMIM reference -
1 associated gene
21 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Thyroid hypoplasia
2 OMIM references -
6 associated genes
14 signs/symptoms
Boomerang dysplasia
Thyroid hypoplasia

FLNB
(UniProt - OMIM)
 FOXE1
(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)
FLNB
(0.67)
TSHR


Citations in the biomedical literature:


Boomerang dysplasia
FLNB
Thyroid hypoplasia
FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TSHR



Boomerang dysplasia
Thyroid hypoplasia

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C536573
External references:
2 OMIM references -
No MeSH references
COMMON
SIGNS 		- Absent / hypotonic / flaccid abdominal wall muscles
- Short stature / dwarfism / nanism

Boomerang dysplasia
Thyroid hypoplasia

Very frequent
- Abnormal / absent ossification
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Lack / delayed ossification of spine / vertebrae
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Rhizomelic micromelia
- Stillbirth / neonatal death
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly

Frequent
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Hydrops fetalis
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Metacarpal anomalies / Archibald's sign
- Omphalocele / exomphalos
- Polyhydramnios
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Syndactyly of fingers / interdigital palm
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray


Very frequent
- Asthenia / fatigue / weakness
- Coarse face
- Constipation
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- 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

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability