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8 OMIM references -
10 associated genes
65 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
2 OMIM references -
2 associated genes
29 signs/symptoms
Dyskeratosis congenita
Loeys-Dietz syndrome type 1

CTC1 TGFBR1
DKC1 TGFBR2
NHP2
NOP10
RTEL1
TERC
TERT
TINF2
USB1
WRAP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TERT
(0.63)
TGFBR2



Citations in the biomedical literature:


Dyskeratosis congenita
CTC1 DKC1 NHP2 NOP10 RTEL1 TERC
TERT TINF2 USB1 WRAP53
Loeys-Dietz syndrome type 1
TGFBR1 TGFBR2



Dyskeratosis congenita
Loeys-Dietz syndrome type 1

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

Synonym(s):
- Aortic aneurysm syndrome due to TGF-beta receptors anomalies

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):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
8 OMIM references -
1 MeSH reference: D019871
External references:
2 OMIM references -
No MeSH references


COMMON
SIGNS
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Scoliosis


Dyskeratosis congenita
Loeys-Dietz syndrome type 1

Very frequent
- Abnormal fingernails
- Anaemia
- 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
- X-linked recessive inheritance

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
- Hyperhidrosis / increased sweating
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Irregular / patchy skin hypopigmentation
- Malabsorption / chronic diarrhea / steatorrhea
- 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
- Short stature / dwarfism / nanism
- Skin hypoplasia / aplasia / atrophy
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- T-cell deficiency / cellular immunity deficiency
- Telangiectasiae of the skin
- 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
- Cataract / lens opacification
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cirrhosis
- Diabetes mellitus
- Eyebrows anomalies
- Hearing loss / hypoacusia / deafness
- Hepatocellular liver disease / hepatic failure
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Hypospadias / epispadias / bent penis
- Intracranial / cerebral calcifications
- Lymphoma
- Osteonecrosis / bone infarction
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Premature greying of hair
- Splenomegaly
- Testis anomalies
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Very frequent
- Aortic dissection
- Aortic root dilatation / dilation / aneurysm
- Arterial aneurism (excluding aorta)
- Arterial rupture
- Autosomal dominant inheritance
- Flat foot
- High vaulted / narrow palate
- Palate anomalies
- Patent ductus arteriosus
- Uterine rupture

Frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Blue sclerae
- Camptodactyly of fingers
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flat cheek bones / malar hypoplasia
- Long hand / arachnodactyly
- Marfanoid morphotype
- Micrognathia / retrognathia / micrognathism / retrognathism
- Striae
- Tall stature / gigantism / growth acceleration

Occasional
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Craniostenosis / craniosynostosis / sutural synostosis
- Hyperextensible joints / articular hyperlaxity
- Joint dislocation / subluxation
- Pectus carinatum
- Pectus excavatum
- Thin skin