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Congenital stromal corneal dystrophy
1 OMIM reference -
1 associated gene
101 connected diseases
No signs/symptoms info
Disease Type of connection
Ehlers-Danlos / osteogenesis imperfecta syndrome
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Familial thoracic aortic aneurysm and aortic dissection
Ehlers-Danlos syndrome type 1
X-linked diffuse leiomyomatosis - Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Giant cell glioblastoma
Gliosarcoma
Camurati-Engelmann disease
Cystic fibrosis
Punctate palmoplantar keratoderma type 1
Autosomal dominant cutis laxa
Bethlem myopathy
Chronic intestinal pseudoobstruction
Congenital muscular dystrophy, Ullrich type
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Immunodeficiency due to an early component of complement deficiency
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Peters anomaly
Supravalvular aortic stenosis
Terminal osseous dysplasia - pigmentary defects
Williams syndrome
Familial papillary renal cell carcinoma
Hepatocellular carcinoma, childhood-onset
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome, cardiac valvular type
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Caffey disease
Craniometaphyseal dysplasia
Dermatofibrosarcoma protuberans
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Familial pancreatic carcinoma
Familial prostate cancer
Hemihypertrophy
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Hyperinsulinism due to INSR deficiency
Hypoplastic left heart syndrome
Insulin-resistance syndrome type A
Leprechaunism
MODY syndrome
Oculodentodigital dysplasia
Permanent neonatal diabetes mellitus
Primary peritoneal carcinoma
Rabson-Mendenhall syndrome
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to imprinting defect of 11p15
Syndactyly type 3
X-linked nonsyndromic sensorineural deafness type DFN
Acromicric dysplasia
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Ehlers-Danlos syndrome type 2
Familial porencephaly
Familial vascular leukoencephalopathy
Fibronectin glomerulopathy
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Isolated ectopia lentis
Marfan syndrome type 1
Neonatal Marfan syndrome
Nodulosis-arthropathy-osteolysis syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Schizencephaly
Shprintzen-Goldberg syndrome
Stiff skin syndrome
Torg-Winchester syndrome
Walker-Warburg syndrome
Weill-Marchesani syndrome
X-linked Alport syndrome
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Czech dysplasia, metatarsal type
Dysspondyloenchondromatosis
Familial avascular necrosis of femoral head
Hypochondrogenesis
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Synonym(s):
- CSCD
- Congenital hereditary stromal dystrophy
- Witschel dystrophy
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DCN P07585125255
No signs/symptoms info available.