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Pachyonychia congenita
3 OMIM references -
4 associated genes
25 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Cabezas syndrome
1 OMIM reference -
1 associated gene
23 signs/symptoms
Pachyonychia congenita
Cabezas syndrome

KRT16
(UniProt - OMIM)
 CUL4B
(UniProt - OMIM)
KRT17
(UniProt - OMIM)
KRT6A
(UniProt - OMIM)
KRT6B
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
KRT16
(0.63)
CUL4B


Citations in the biomedical literature:


Pachyonychia congenita
KRT16 KRT17 KRT6A KRT6B
Cabezas syndrome
CUL4B



Pachyonychia congenita
Cabezas syndrome

Synonym(s):
- PC
Synonym(s):
- X-linked intellectual deficit, Cabezas type
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
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: x-linked recessive
External references:
3 OMIM references -
1 MeSH reference: D053549
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Hyperhidrosis / increased sweating
- Intellectual deficit / mental / psychomotor retardation / learning disability

Pachyonychia congenita
Cabezas syndrome

Very frequent
- Abnormal nails colour / leukonychia / melanonychia
- Autosomal dominant inheritance
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Enanthema / aphtosa / aphta / leukoplakia
- Hair and scalp anomalies
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma

Frequent
- Absent / small fingernails / anonychia of hands
- Anomalies of teeth and dentition
- Ichthyosis / ichthyosiform dermatitis
- Multiple caries
- Skin tumors / lumps / epidermal cysts
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Abnormal fingernails
- Alopecia
- Autosomal recessive inheritance
- Cataract / lens opacification
- Corneal dystrophy
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Laryngomalacia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction


Very frequent
- Inguinal / inguinoscrotal / crural hernia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Abnormal gait
- Blepharophimosis / short palpebral fissures
- Everted lower lip
- Generalized obesity
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Pes cavus
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short foot / brachydactyly of toes
- Short stature / dwarfism / nanism
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Tremor
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Wide space between 1st-2nd toes

Occasional
- Acanthosis nigricans
- Hyperextensible joints / articular hyperlaxity
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Kyphosis
- Late puberty / hypogonadism / hypogenitalism
- Syndactyly of toes