Cytoscape Web
Click node...


1 OMIM reference -
4 associated genes
28 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
6 OMIM references -
7 associated genes
54 signs/symptoms
Hoyeraal-Hreidarsson syndrome
Cowden syndrome

DKC1 AKT1
RTEL1 KLLN
TERT PIK3CA
TINF2 PTEN
SDHB
SDHC
SDHD


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TERT
(0.88)
AKT1



Citations in the biomedical literature:


Hoyeraal-Hreidarsson syndrome
DKC1 RTEL1 TERT TINF2
Cowden syndrome
AKT1 KLLN PIK3CA PTEN SDHB SDHC
SDHD



Hoyeraal-Hreidarsson syndrome
Cowden syndrome

Synonym(s):
- Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia

Synonym(s):
- Cowden disease
- Multiple hamartoma syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare immune 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):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
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 -
1 MeSH reference: C536068
External references:
6 OMIM references -
1 MeSH reference: D006223


COMMON
SIGNS
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Neoplasms / tumors
- Short stature / dwarfism / nanism


Hoyeraal-Hreidarsson syndrome
Cowden syndrome

Very frequent
- Autosomal recessive inheritance
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intrauterine growth retardation
- Microcephaly
- Purpura / petichiae
- Thrombocytopenia / thrombopenia
- X-linked recessive inheritance

Frequent
- Anaemia
- Clotting / hemostasis disorders
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Decreased hair pigmentation / hypopigmentation of hair
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Dilated cerebral ventricles without hydrocephaly
- Enanthema / aphtosa / aphta / leukoplakia
- Hypertonia / spasticity / rigidity / stiffness
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Nails anomalies
- Rippled skin

Occasional
- Areflexia / hyporeflexia
- Ataxia / incoordination / trouble of the equilibrium
- Bone marrow failure / pancytopenia
- Intracranial / cerebral calcifications
- White cell disorders


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
- 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
- Cataract / lens opacification
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Cranial hypertension
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hearing loss / hypoacusia / deafness
- 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
- Short hand / brachydactyly
- T-cell deficiency / cellular immunity deficiency
- Thyroid neoplasm / tumor / carcinoma / cancer
- Uterine / uterus / Fallopian tubes anomalies
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer