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Achondroplasia
1 OMIM reference -
1 associated gene
41 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Chronic mucocutaneous candidiasis
10 OMIM references -
7 associated genes
33 signs/symptoms
Achondroplasia
Chronic mucocutaneous candidiasis

FGFR3
(UniProt - OMIM)
 CARD9
(UniProt - OMIM)
CLEC7A
(UniProt - OMIM)
ICAM1
(UniProt - OMIM)
IL17F
(UniProt - OMIM)
IL17RA
(UniProt - OMIM)
STAT1
(UniProt - OMIM)
TRAF3IP2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FGFR3
(0.66)
STAT1


Citations in the biomedical literature:


Achondroplasia
FGFR3
Chronic mucocutaneous candidiasis
CARD9 CLEC7A ICAM1 IL17F IL17RA STAT1
TRAF3IP2



Achondroplasia
Chronic mucocutaneous candidiasis

Synonym(s):
(no synonyms)

Synonym(s):
- CMC
- Chronic mucocutaneous candidosis
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Certain infectious and parasitic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: elderly
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D000130
External references:
10 OMIM references -
1 MeSH reference: D002178
COMMON
SIGNS 		- Autosomal dominant inheritance

Achondroplasia
Chronic mucocutaneous candidiasis

Very frequent
- Anomalies of the ribs
- Anteverted nares / nostrils
- Chronic / relapsing otitis
- Depressed nasal bridge
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Frontal bossing / prominent forehead
- Genu varum
- Lordosis
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metaphyseal anomaly
- Rhizomelic micromelia
- Short hand / brachydactyly
- Short stature / dwarfism / nanism

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormal vertebral size / shape
- Apnea / sleep apnea
- Bowed diaphysis / diaphyses / long bones
- Conductive deafness / hearing loss
- Dilated cerebral ventricles without hydrocephaly
- Elbow anomalies(excluding luxation)
- Enlarged diaphysis / diaphyses
- Generalized obesity
- Hyperextensible joints / articular hyperlaxity
- Hyperhidrosis / increased sweating
- Hypotonia
- Intrauterine growth retardation
- Kyphosis
- Long rib cage / thorax
- Mid-facial hypoplasia / short / small midface
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality

Occasional
- Acanthosis nigricans
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Death in infancy
- Elbow dislocation
- Elocution disorders / dysarthria / dysphonia
- Hydrocephaly
- Rachidian / spine canal stenosis
- Restricted joint mobility / joint stiffness / ankylosis
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia


Very frequent
- Abnormal fingernails
- Abnormal toenails
- Anomalies of mouth, lip and philtrum
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Nails anomalies
- Oral mucosa disease / cheilitis

Frequent
- Dyspareunia / coital pain / vaginal dryness
- Follicular / erythematous / edematous papules / milium
- Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation

Occasional
- Anomalies of eyes and vision
- Cough
- Enamel anomaly
- Endocardium anomalies / fibroelastosis / endocarditis
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Fever / chilling
- Hematuria / microhematuria
- Hemoptysis
- Hepatitis / icterus / cholestasis
- Motor deficit / trouble
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Pruritus / itching
- Recurrent urinary infections
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus