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Septopreoptic holoprosencephaly
14 associated genes
159 connected diseases
No signs/symptoms info
Disease Type of connection
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Schizencephaly
Colobomatous microphthalmia
Hypoplastic tibiae - postaxial polydactyly
Polydactyly of a triphalangeal thumb, bilateral
Polydactyly of a triphalangeal thumb, unilateral
Radial hemimelia, bilateral
Radial hemimelia, unilateral
Solitary median maxillary central incisor syndrome
Syndactyly type 4
Triphalangeal thumb - polysyndactyly syndrome
Combined pituitary hormone deficiencies, genetic forms
Gorlin syndrome
Monosomy 9q22.3
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Situs ambiguus
Situs inversus totalis
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Extraskeletal myxoid chondrosarcoma
Isolated brachycephaly
Isolated plagiocephaly
Cutis gyrata - acanthosis nigricans - craniosynostosis
Lacrimo-auriculo-dento-digital syndrome
Precursor B-cell acute lymphoblastic leukemia
Saethre-Chotzen syndrome
Giant cell glioblastoma
Gliosarcoma
Autosomal agammaglobulinemia
Autosomal dominant nonsyndromic intellectual deficit
Familial isolated dilated cardiomyopathy
Pfeiffer syndrome type 1
Early-onset autosomal dominant Alzheimer disease
Acroosteolysis dominant type
Alagille syndrome due to a NOTCH2 point mutation
14q11.2 microduplication syndrome
14q12 microdeletion syndrome
Acute promyelocytic leukemia
Atypical Rett syndrome
CADASIL
Infantile myofibromatosis
Acrocallosal syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Isolated Dandy-Walker malformation with hydrocephalus
Isolated Dandy-Walker malformation without hydrocephalus
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Melanoma of soft part
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Desmoplastic / nodular medulloblastoma
Familial multiple meningioma
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Medulloblastoma with extensive nodularity
Morning glory syndrome
Peters anomaly
WAGR syndrome
Achondroplasia
Camptodactyly - tall stature - scoliosis - hearing loss
Craniopharyngioma
Crouzon syndrome - acanthosis nigricans
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Hypochondroplasia
Isolated cloverleaf skull syndrome
Muenke syndrome
Pilomatrixoma
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Bardet-Biedl syndrome
Chronic myeloid leukemia
Familial gastric cancer
Gastric linitis plastica
McKusick-Kaufman syndrome
Precursor T-cell acute lymphoblastic leukemia
1p36 deletion syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency
Shprintzen-Goldberg syndrome
Amyotrophic lateral sclerosis
Berardinelli-Seip congenital lipodystrophy
Biliary atresia
Combined oxidative phosphorylation defect type 17
Diffuse cutaneous systemic sclerosis
Familial hypocalciuric hypercalcemia type 3
Familial prostate cancer
Heritable pulmonary arterial hypertension
Left ventricular noncompaction
Limited cutaneous systemic sclerosis
Maternal uniparental disomy of chromosome 14
Paternal uniparental disomy of chromosome 14
SHORT syndrome
Syndromic multisystem autoimmune disease due to Itch deficiency
Synpolydactyly type 2
Antley-Bixler syndrome
Apert syndrome
Complete androgen insensitivity syndrome
Crouzon disease
FGFR2-related bent bone dysplasia
Familial hypospadias
Familial scaphocephaly syndrome, McGillivray type
Jackson-Weiss syndrome
Kennedy disease
Partial androgen insensitivity syndrome
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Athyreosis
Atrial septal defect - atrioventricular conduction defects
Atrial septal defect, ostium secundum type
Behavioral variant of frontotemporal dementia
Dowling-Degos disease
Familial atrial fibrillation
Familial isolated congenital asplenia
Familial progressive cardiac conduction defect
Hypoplastic left heart syndrome
Progressive non-fluent aphasia
Reticulate acropigmentation of Kitamura
Semantic dementia
Single ventricular septal defect
Tetralogy of Fallot
Thyroid hypoplasia
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
BOR syndrome
Branchio-otic syndrome
Distal 22q11.2 microdeletion syndrome
Hartsfield-Bixler-Demyer syndrome
Isolated trigonocephaly
Myeloid neoplasm associated with FGFR1 rearrangement
Oligodontia
Osteoglophonic dwarfism
Otofaciocervical syndrome
Pilocytic astrocytoma
Septo-optic dysplasia
46,XY complete gonadal dysgenesis
46,XY gonadal dysgenesis - motor and sensory neuropathy
Acrocapitofemoral dysplasia
Brachydactyly type A1
Commissural facial cleft
Synonym(s):
- Septopreoptic HPE
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: multigenic/multifactorial
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.