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Acrodysostosis with multiple hormone resistance
2 OMIM references -
2 associated genes
62 connected diseases
No signs/symptoms info
Disease Type of connection
Acrodysostosis
Carney complex
Familial atrial myxoma
Primary pigmented nodular adrenocortical disease
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Retinitis pigmentosa
Williams syndrome
Periventricular nodular heterotopia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Usher syndrome type 1
Giant cell glioblastoma
Gliosarcoma
Autosomal dominant nonsyndromic intellectual deficit
17p13.3 microduplication syndrome
Lissencephaly due to LIS1 mutation
Miller-Dieker syndrome
Subcortical band heterotopia
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Anophthalmia / microphthalmia - esophageal atresia
Autosomal recessive centronuclear myopathy
CLOVE syndrome
Chronic myeloid leukemia
Classical homocystinuria
Colobomatous microphthalmia
Cowden syndrome
Hemimegalencephaly
Hereditary nonpolyposis colon cancer
Hereditary sensory and autonomic neuropathy type 2
Isolated anophthalmia - microphthalmia
Leber congenital amaurosis
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Pigmented paravenous retinochoroidal atrophy
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2E
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Septo-optic dysplasia
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
Chorioretinopathy, Birdshot type
Distal 22q11.2 microdeletion syndrome
Familial melanoma
Blackfan-Diamond anemia
Early infantile epileptic encephalopathy
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Intellectual deficit, X-linked, Turner type
Multiple endocrine neoplasia type 1
Posterior polar cataract
Zollinger-Ellison syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
PDE4D Q08499600129
PRKAR1A P10644188830
No signs/symptoms info available.