ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE

General Information (adopted from Orphanet):

Synonyms, Signs: ACRDYS1
ADOHR
Number of Symptoms 46
OrphanetNr:
OMIM Id: 101800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000135) Hypogonadism 89 / 7739
3
(HPO:0004490) Calvarial hyperostosis 11 / 7739
4
(HPO:0005280) Depressed nasal bridge 381 / 7739
5
(HPO:0000668) Hypodontia 81 / 7739
6
(HPO:0000248) Brachycephaly 222 / 7739
7
(HPO:0000316) Hypertelorism 644 / 7739
8
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
9
(HPO:0000286) Epicanthus 371 / 7739
10
(HPO:0000303) Mandibular prognathia 179 / 7739
11
(HPO:0000684) Delayed eruption of teeth 117 / 7739
12
(HPO:0000455) Broad nasal tip 67 / 7739
13
(HPO:0000689) Dental malocclusion 114 / 7739
14
(HPO:0000635) Blue irides 25 / 7739
15
(HPO:0000486) Strabismus 576 / 7739
16
(HPO:0000648) Optic atrophy 238 / 7739
17
(HPO:0000365) Hearing impairment 539 / 7739
18
(HPO:0001249) Intellectual disability 1089 / 7739
19
(HPO:0003165) Elevated circulating parathyroid hormone level 17 / 7739
20
(HPO:0010743) Short metatarsal 56 / 7739
21
(HPO:0008450) Narrow vertebral interpedicular distance 6 / 7739
22
(HPO:0010049) Short metacarpal 99 / 7739
23
(HPO:0010579) Cone-shaped epiphysis 54 / 7739
24
(HPO:0002650) Scoliosis 705 / 7739
25
(HPO:0005616) Accelerated skeletal maturation 46 / 7739
26
(HPO:0001847) Long hallux 13 / 7739
27
(HPO:0005756) Neonatal epiphyseal stippling 2 / 7739
28
(HPO:0003083) Dislocated radial head 35 / 7739
29
(HPO:0003416) Spinal canal stenosis 28 / 7739
30
(HPO:0008479) Hypoplastic vertebral bodies 12 / 7739
31
(HPO:0009803) Short phalanx of finger 79 / 7739
32
(HPO:0004322) Short stature 1232 / 7739
33
(HPO:0008873) Disproportionate short-limb short stature 39 / 7739
34
(HPO:0000995) Melanocytic nevus 63 / 7739
35
(OMIM) Normal or increased serum phosphate 1 / 7739
36
(HPO:0000238) Hydrocephalus 278 / 7739
37
(OMIM) Growth retardation, mild to moderate, prenatal onset 1 / 7739
38
(OMIM) Low or normal serum calcium 1 / 7739
39
(OMIM) Dorsal hand wrinkling 1 / 7739
40
(OMIM) Broad, short hands 14 / 7739
41
(OMIM) Increased urinary cAMP excretion 1 / 7739
42
(OMIM) Increased serum calcitonin 1 / 7739
43
(OMIM) Dimpled nasal tip 1 / 7739
44
(OMIM) Increased serum thyrotropin 1 / 7739
45
(OMIM) Multiple hormone resistance 1 / 7739
46
(OMIM) Irregular menses 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Acrodysostosis-1 is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, ...
Clinical Description OMIM Maroteaux and Malamut (1968) described acrodysostosis as a condition in small hands and feet were associated with which peculiar facies, including short nose, open mouth, and prognathism. Radiographs showed cone epiphyses. Mental deficiency was also frequent.

...

Molecular genetics OMIM In 3 unrelated patients with acrodysostosis with hormone resistance, Linglart et al. (2011) identified a de novo truncating mutation in the PRKAR1A gene (R368X; 188830.0015). The mutation resulted in decreased protein kinase A sensitivity to cAMP, resulting in ...