MCID: ACR079
MIFTS: 24

Acrodysostosis with Multiple Hormone Resistance

Categories: Ear diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Acrodysostosis with Multiple Hormone Resistance

Summaries for Acrodysostosis with Multiple Hormone Resistance

MalaCards based summary : Acrodysostosis with Multiple Hormone Resistance is related to pseudopseudohypoparathyroidism and acrodysostosis. An important gene associated with Acrodysostosis with Multiple Hormone Resistance is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha), and among its related pathways/superpathways are DAG and IP3 signaling and Sweet Taste Signaling. Affiliated tissues include bone, and related phenotypes are pseudohypoparathyroidism and cryptorchidism

Related Diseases for Acrodysostosis with Multiple Hormone Resistance

Diseases related to Acrodysostosis with Multiple Hormone Resistance via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pseudopseudohypoparathyroidism 9.3 PDE4D PRKAR1A
2 acrodysostosis 9.2 PDE4D PRKAR1A
3 albright's hereditary osteodystrophy 9.0 PDE4D PRKAR1A

Symptoms & Phenotypes for Acrodysostosis with Multiple Hormone Resistance

Human phenotypes related to Acrodysostosis with Multiple Hormone Resistance:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pseudohypoparathyroidism 59 32 obligate (100%) Obligate (100%) HP:0000852
2 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
3 hypospadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0000047
4 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
5 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
6 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
7 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
8 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
9 congenital hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000851
10 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
11 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
12 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
13 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
14 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
15 short toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0001831
16 increased intracranial pressure 59 32 hallmark (90%) Very frequent (99-80%) HP:0002516
17 hypocalcemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002901
18 hyperphosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002905
19 elevated circulating parathyroid hormone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003165
20 elevated calcitonin 59 32 hallmark (90%) Very frequent (99-80%) HP:0003528
21 hypoplasia of the nasal bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0004646
22 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
23 cerebral venous thrombosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005305
24 absent/hypoplastic paranasal sinuses 59 32 hallmark (90%) Very frequent (99-80%) HP:0005453
25 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616
26 narrow vertebral interpedicular distance 59 32 hallmark (90%) Very frequent (99-80%) HP:0008450
27 hypoplastic vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0008479
28 congenital craniofacial dysostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008497
29 short phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009803
30 short metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010049
31 cone-shaped epiphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010579
32 short metatarsal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010743
33 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
34 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
35 autism 59 32 frequent (33%) Frequent (79-30%) HP:0000717
36 hyperactivity 59 32 frequent (33%) Frequent (79-30%) HP:0000752
37 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
38 growth hormone deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000824
39 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
40 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
41 spinal canal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0003416
42 mild short stature 59 32 frequent (33%) Frequent (79-30%) HP:0003502
43 blue irides 59 32 occasional (7.5%) Occasional (29-5%) HP:0000635
44 fair hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0002286
45 red hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0002297
46 low urinary cyclic amp response to pth administration 59 Excluded (0%)

Drugs & Therapeutics for Acrodysostosis with Multiple Hormone Resistance

Search Clinical Trials , NIH Clinical Center for Acrodysostosis with Multiple Hormone Resistance

Genetic Tests for Acrodysostosis with Multiple Hormone Resistance

Anatomical Context for Acrodysostosis with Multiple Hormone Resistance

MalaCards organs/tissues related to Acrodysostosis with Multiple Hormone Resistance:

41
Bone

Publications for Acrodysostosis with Multiple Hormone Resistance

Variations for Acrodysostosis with Multiple Hormone Resistance

Expression for Acrodysostosis with Multiple Hormone Resistance

Search GEO for disease gene expression data for Acrodysostosis with Multiple Hormone Resistance.

Pathways for Acrodysostosis with Multiple Hormone Resistance

Pathways related to Acrodysostosis with Multiple Hormone Resistance according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 PDE4D PRKAR1A
2
Show member pathways
12.26 PDE4D PRKAR1A
3
Show member pathways
11.82 PDE4D PRKAR1A
4
Show member pathways
11.75 PDE4D PRKAR1A
5
Show member pathways
11.38 PDE4D PRKAR1A
6
Show member pathways
10.91 PDE4D PRKAR1A
7 10.57 PDE4D PRKAR1A

GO Terms for Acrodysostosis with Multiple Hormone Resistance

Molecular functions related to Acrodysostosis with Multiple Hormone Resistance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cAMP binding GO:0030552 8.62 PDE4D PRKAR1A

Sources for Acrodysostosis with Multiple Hormone Resistance

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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