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Myhre syndrome
1 OMIM reference -
1 associated gene
35 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
Cowden syndrome
6 OMIM references -
7 associated genes
54 signs/symptoms
Myhre syndrome
Cowden syndrome

SMAD4
(UniProt - OMIM)
 AKT1
(UniProt - OMIM)
KLLN
(UniProt - OMIM)
PIK3CA
(UniProt - OMIM)
PTEN
(UniProt - OMIM)
SDHB
(UniProt - OMIM)
SDHC
(UniProt - OMIM)
SDHD
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SMAD4
(0.89)
AKT1


Citations in the biomedical literature:


Myhre syndrome
SMAD4
Cowden syndrome
AKT1 KLLN PIK3CA PTEN SDHB SDHC
SDHD



Myhre syndrome
Cowden syndrome

Synonym(s):
- Facial dysmorphism - intellectual deficit - short stature - hearing loss
Synonym(s):
- Cowden disease
- Multiple hamartoma syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
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:
6 OMIM references -
1 MeSH reference: D006223
COMMON
SIGNS 		- Cataract / lens opacification
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short hand / brachydactyly
- Short stature / dwarfism / nanism

Myhre syndrome
Cowden syndrome

Very frequent
- Anomalies of the ribs
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- 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 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
- 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


Very frequent
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Follicular / conjunctival hamartomas
- Follicular / erythematous / edematous papules / milium
- Goiter
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Macules
- Palmoplantar hyperkeratosis / keratoderma
- Polyposis of the bowel / colon / intestine
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Warts / papillomas

Frequent
- Adenoma sebaceum
- Cavernous / tuberous hemangioma
- Fissured / scrotal tongue
- Hairy patch
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Meningioma
- Neoplasms / tumors
- Penis anomalies
- Pigmented naevi / naevus pigmentosus / lentigo
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Telangiectasiae of mucosae
- Thyroid anomalies
- Xanthomas / lipomas

Occasional
- Abnormal / polycystic ovaries
- Autism / autistic disoders
- Bone cyst
- Cafe-au-lait spot
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cranial hypertension
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- High vaulted / narrow palate
- Irregular / patchy skin hypopigmentation
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Kyphosis
- Melanoma
- Myopia
- Pectus excavatum
- Renal / kidney anomalies
- Retinal vascular anomalies / retinal telangiectasia
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- T-cell deficiency / cellular immunity deficiency
- Thyroid neoplasm / tumor / carcinoma / cancer
- Uterine / uterus / Fallopian tubes anomalies
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer