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Hereditary pheochromocytoma-paraganglioma
6 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Myhre syndrome
1 OMIM reference -
1 associated gene
35 signs/symptoms
Hereditary pheochromocytoma-paraganglioma
Myhre syndrome

MAX
(UniProt - OMIM)
 SMAD4
(UniProt - OMIM)
SDHA
(UniProt - OMIM)
SDHAF2
(UniProt - OMIM)
SDHB
(UniProt - OMIM)
SDHC
(UniProt - OMIM)
SDHD
(UniProt - OMIM)
TMEM127
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MAX
(0.85)
SMAD4


Citations in the biomedical literature:


Hereditary pheochromocytoma-paraganglioma
MAX SDHA SDHAF2 SDHB SDHC SDHD
TMEM127
Myhre syndrome
SMAD4



Hereditary pheochromocytoma-paraganglioma
Myhre syndrome

Synonym(s):
- Familial pheochromocytoma-paraganglioma
- SDHx-related paraganglioma-pheochromocytoma
Synonym(s):
- Facial dysmorphism - intellectual deficit - short stature - hearing loss
Classification (Orphanet):
- Rare circulatory system disease
- Rare endocrine disease
- Rare genetic disease
- Rare oncologic disease
- Rare renal disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
6 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Myhre syndrome

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
- Short stature / dwarfism / nanism
- 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
- Late puberty / hypogonadism / hypogenitalism
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Precocious puberty
- Psychic / behavioural troubles


Hereditary pheochromocytoma-paraganglioma

(no data available)