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8 OMIM references -
10 associated genes
65 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 10
1 OMIM reference -
1 associated gene
66 signs/symptoms
Dyskeratosis congenita
Fabry disease

CTC1 GLA
DKC1
NHP2
NOP10
RTEL1
TERC
TERT
TINF2
USB1
WRAP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TERT
(0.63)
GLA



Citations in the biomedical literature:


Dyskeratosis congenita
CTC1 DKC1 NHP2 NOP10 RTEL1 TERC
TERT TINF2 USB1 WRAP53
Fabry disease
GLA



Dyskeratosis congenita
Fabry disease

Synonym(s):
- DKC
- Zinsser-Engman-Cole syndrome

Synonym(s):
- Alpha-galactosidase A deficiency
- Anderson-Fabry disease
- Angiokeratoma corporis diffusum
- Diffuse angiokeratoma
- FD

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: x-linked recessive

External references:
8 OMIM references -
1 MeSH reference: D019871
External references:
1 OMIM reference -
1 MeSH reference: D000795


COMMON
SIGNS
- Anaemia
- Cataract / lens opacification
- Hearing loss / hypoacusia / deafness
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Malabsorption / chronic diarrhea / steatorrhea
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Short stature / dwarfism / nanism
- Telangiectasiae of the skin
- X-linked recessive inheritance


Dyskeratosis congenita
Fabry disease

Very frequent
- Abnormal fingernails
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of tongue, gingiva and oral mucosa
- Dysplastic / thick / grooved toenails
- Irregular / in bands / reticular skin hyperpigmentation
- Macules
- Polynuclear cells / neutrophils anomalies / neutropenia
- Thin / hypoplastic / hyperconvex fingernails
- Thrombocytopenia / thrombopenia

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Anomaly of the pharynx / pharyngeal anomaly
- Anus / rectum anomalies
- Bone marrow failure / pancytopenia
- Chronic skin infection / ulcerations / ulcers / cancrum
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hyperhidrosis / increased sweating
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intrauterine growth retardation
- Irregular / patchy skin hypopigmentation
- Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia
- Multiple caries
- Mutiple fractures / bone fragility
- Neoplasms / tumors
- Palmoplantar hyperkeratosis / keratoderma
- Repeat respiratory infections
- Rough trabeculation of bone
- Skin hypoplasia / aplasia / atrophy
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- T-cell deficiency / cellular immunity deficiency
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis
- Uterine / uterus / Fallopian tubes anomalies

Occasional
- Albinism (hair)
- Alopecia
- Anomalies of eyelids, eyelashes and lacrimal system
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cirrhosis
- Diabetes mellitus
- Eyebrows anomalies
- Hepatocellular liver disease / hepatic failure
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Hypospadias / epispadias / bent penis
- Intracranial / cerebral calcifications
- Lymphoma
- Osteonecrosis / bone infarction
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Premature greying of hair
- Scoliosis
- Splenomegaly
- Testis anomalies
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Very frequent
- Acute abdominal pain / colic
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Conjunctival telangiectasia
- Corneal clouding / opacity / vascularisation
- Corneal dystrophy
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Follicular / erythematous / edematous papules / milium
- Heart / cardiac failure
- Hematuria / microhematuria
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Myalgia / muscular pain
- Nephrotic syndrome
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Renal failure
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Telangiectasiae of mucosae
- Transient cerebral ischemia / stroke
- Vascular anomalies of skin / mucosae

Frequent
- Anorexia
- Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Coarse face
- Emphysema
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Late puberty / hypogonadism / hypogenitalism
- Lipidosis / sulfatidosis
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Proteinuria
- Psychic / behavioural troubles
- Renal disease / nephropathy
- Renal tubular defect / tubulopathy
- Thick lips

Occasional
- Angor pectoris / myocardial infarction
- Cardiac rhythm disorder / arrhythmia
- Cardiomyopathy / hypertrophic / dilated
- Chronic arterial hypertension
- Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome
- Diabetes insipidus
- Dizziness
- Endocardium anomalies / fibroelastosis / endocarditis
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Fever / chilling
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperesthesia / allodynia / hyperalgia
- Lymphedema
- Myocardium anomalies / myocarditis
- Psychic / psychomotor regression / dementia / intellectual decline
- Renal glomerular defect / glomerulopathy
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss