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Isolated anophthalmia - microphthalmia
7 OMIM references -
7 associated genes
141 connected diseases
No signs/symptoms info
Disease Type of connection
Colobomatous microphthalmia
Septo-optic dysplasia
Agnathia - holoprosencephaly - situs inversus
Anophthalmia / microphthalmia - esophageal atresia
Combined pituitary hormone deficiencies, genetic forms
Isolated Klippel-Feil syndrome
Microphthalmia - cataract
Syndromic microphthalmia type 5
Peters anomaly
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Morning glory syndrome
WAGR syndrome
Precursor B-cell acute lymphoblastic leukemia
Coffin-Siris syndrome
Isolated brachycephaly
Isolated scaphocephaly
46,XY complete gonadal dysgenesis
17q12 microdeletion syndrome
Classic Mayer-Rokitansky-Küster-Hauser syndrome
MURCS association
Atypical teratoid tumor
CHARGE syndrome
Familial multiple meningioma
Familial rhabdoid tumor
Kallmann syndrome
Neurofibromatosis type 3
Normosmic congenital hypogonadotropic hypogonadism
Omenn syndrome
Spinocerebellar ataxia type 1
Dedifferentiated liposarcoma
Familial melanoma
Well-differentiated liposarcoma
12p12.1 microdeletion syndrome
3M syndrome
Acrocallosal syndrome
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Anauxetic dysplasia
Atypical Rett syndrome
Autosomal agammaglobulinemia
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive primary microcephaly
Axenfeld anomaly
Axenfeld-Rieger syndrome
Carney complex
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Congenital fibrosis of extraocular muscles
Congenital mesoblastic nephroma
Cornelia de Lange syndrome
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Craniopharyngioma
Desmoid tumor
Developmental and speech delay due to SOX5 deficiency
Distal hereditary motor neuropathy type 2
Distal myopathy, Welander type
Essential thrombocythemia
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Familial atrial myxoma
Familial isolated dilated cardiomyopathy
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Fibrosarcoma
Frontonasal dysplasia with alopecia and genital anomaly
Fuchs endothelial corneal dystrophy
Greig cephalopolysyndactyly syndrome
HSD10 disease, atypical type
HSD10 disease, infantile type
HSD10 disease, neonatal type
Helicoid peripapillary chorioretinal degeneration
Hepatocellular carcinoma, childhood-onset
Hyperparathyroidism - jaw tumor syndrome
Hypotonia with lactic acidemia and hyperammonemia
Intellectual deficit - sparse hair - brachydactyly
Intellectual deficit, X-linked - psychosis - macroorchidism
Isolated ATP synthase deficiency
Isolated delta-storage pool disease
Isolated plagiocephaly
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Lissencephaly due to TUBA1A mutation
Mowat-Wilson syndrome due to a point mutation
Mowat-Wilson syndrome due to monosomy 2q22
Muscular dystrophy, Selcen type
Myelodysplastic syndromes
Myelofibrosis with myeloid metaplasia
Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
Pallister-Hall syndrome
Papillary or follicular thyroid carcinoma
Parathyroid carcinoma
Parietal foramina
Pilomatrixoma
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Pontocerebellar hypoplasia type 2
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Posterior polymorphous corneal dystrophy
Potocki-Shaffer syndrome
Precursor T-cell acute lymphoblastic leukemia
Primary biliary cirrhosis
Primary pigmented nodular adrenocortical disease
Progressive cerebello-cerebral atrophy
Rett syndrome
Rieger anomaly
Saethre-Chotzen syndrome
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Severe neonatal-onset encephalopathy with microcephaly
Simpson-Golabi-Behmel syndrome
Sudden infant death - dysgenesis of the testes
Townes-Brocks syndrome
Trisomy Xq28
Ulnar-mammary syndrome
X-linked non-syndromic intellectual deficit
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
46,XX gonadal dysgenesis
46,XY partial gonadal dysgenesis
Clear cell renal carcinoma
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Tietz syndrome
Waardenburg syndrome type 2
Synonym(s):
- Clinical anophthalmia
- Isolated pure microphthalmia
- Primitive anophthalmia
Classification (Orphanet):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
7 OMIM references -
No MeSH references
No signs/symptoms info available.