Cytoscape Web
Click node...

Cerebellar ataxia - hypogonadism
2 OMIM references -
3 associated genes
18 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
Myhre syndrome
1 OMIM reference -
1 associated gene
35 signs/symptoms
Cerebellar ataxia - hypogonadism
Myhre syndrome

PNPLA6
(UniProt - OMIM)
 SMAD4
(UniProt - OMIM)
RNF216
(UniProt - OMIM)
STUB1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
STUB1
(0.68)
SMAD4


Citations in the biomedical literature:


Cerebellar ataxia - hypogonadism
PNPLA6 RNF216 STUB1
Myhre syndrome
SMAD4



Cerebellar ataxia - hypogonadism
Myhre syndrome

Synonym(s):
- Luteinizing hormone-releasing hormone deficiency with ataxia
Synonym(s):
- Facial dysmorphism - intellectual deficit - short stature - hearing loss
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Late puberty / hypogonadism / hypogenitalism
- Psychic / behavioural troubles
- Short stature / dwarfism / nanism

Cerebellar ataxia - hypogonadism
Myhre syndrome

Very frequent
- Abnormal ERG / electroretinogram / electroretinography
- Ataxia / incoordination / trouble of the equilibrium
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinitis pigmentosa / retinal pigmentary changes
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Sterility / hypofertility

Frequent
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypotonia

Occasional
- Brachycephaly / flat occiput
- Clinodactyly of fifth finger
- Psychic / psychomotor regression / dementia / intellectual decline
- Supernumerary nipples / polythelia


Very frequent
- Anomalies of the ribs
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Hearing loss / hypoacusia / deafness
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microstomia / little mouth
- Mid-facial hypoplasia / short / small midface
- Muscle hypertrophy
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Prognathism / prognathia
- Restricted joint mobility / joint stiffness / ankylosis
- Short hand / brachydactyly
- Short philtrum
- Thin / retracted lips

Frequent
- Abnormal EMG / electromyogram / electropmyography
- Blepharophimosis / short palpebral fissures
- Cardiac septal defect
- Chronic arterial hypertension
- Epiphyseal anomaly
- Hypermetropia
- Metaphyseal anomaly
- Ptosis
- Thick skin / pachydermia / orange skin
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Cataract / lens opacification
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hypospadias / epispadias / bent penis
- Inguinal / inguinoscrotal / crural hernia
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Precocious puberty