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Acrodysostosis
2 OMIM references -
2 associated genes
62 connected diseases
36 signs/symptoms
Disease Type of connection
Acrodysostosis with multiple hormone resistance
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):
- Acrodysplasia
- Arkless-Graham syndrome
- Maroteaux-Malamut syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic 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: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: C538179

Gene symbol UniProt reference OMIM reference
PDE4D Q08499600129
PRKAR1A P10644188830
Very frequent
- Abnormal vertebral size / shape
- Advanced bone age
- Broad nose / nasal bridge
- Cone epiphyses / epiphysis
- Depressed nasal bridge
- Flattened nose
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Metacarpal anomalies / Archibald's sign
- Mid-facial hypoplasia / short / small midface
- Mouth held open
- Nails anomalies
- Nasal atrophy / hypoplasia / arhinia / rudimentary nose
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Short / small nose

Frequent
- Anteverted nares / nostrils
- Brachycephaly / flat occiput
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Hearing loss / hypoacusia / deafness
- Hypertelorism
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Mesomelic micromelia
- Peripheral neuropathy
- Prognathism / prognathia
- Rachidian / spine canal stenosis
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Autosomal dominant inheritance
- Dental malocclusion
- Epicanthic folds
- Late puberty / hypogonadism / hypogenitalism
- Pigmented naevi / naevus pigmentosus / lentigo