MCID: ACR079
MIFTS: 24

Acrodysostosis with Multiple Hormone Resistance

Categories: Bone diseases, Ear 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 acrodysostosis and albright's hereditary osteodystrophy. An important gene associated with Acrodysostosis with Multiple Hormone Resistance is PDE4D (Phosphodiesterase 4D), and among its related pathways/superpathways are DAG and IP3 signaling and Sweet Taste Signaling. Affiliated tissues include bone, and related phenotypes are malar flattening and obesity

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 acrodysostosis 9.8 PDE4D PRKAR1A
2 albright's hereditary osteodystrophy 9.8 PDE4D PRKAR1A
3 brachydactyly 9.7 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 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
3 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
6 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 increased intracranial pressure 59 32 hallmark (90%) Very frequent (99-80%) HP:0002516
9 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
10 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
11 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
12 cone-shaped epiphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010579
13 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
14 autism 59 32 frequent (33%) Frequent (79-30%) HP:0000717
15 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
16 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
17 short toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0001831
18 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
19 hypospadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0000047
20 blue irides 59 32 occasional (7.5%) Occasional (29-5%) HP:0000635
21 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
22 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
23 hypocalcemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002901
24 elevated circulating parathyroid hormone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003165
25 spinal canal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0003416
26 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
27 short metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010049
28 pseudohypoparathyroidism 59 32 obligate (100%) Obligate (100%) HP:0000852
29 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616
30 hyperactivity 59 32 frequent (33%) Frequent (79-30%) HP:0000752
31 hypoplastic vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0008479
32 short phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009803
33 hyperphosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002905
34 short metatarsal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010743
35 mild short stature 59 32 frequent (33%) Frequent (79-30%) HP:0003502
36 growth hormone deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000824
37 congenital hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000851
38 congenital craniofacial dysostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008497
39 absent/hypoplastic paranasal sinuses 59 32 hallmark (90%) Very frequent (99-80%) HP:0005453
40 hypoplasia of the nasal bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0004646
41 elevated calcitonin 59 32 hallmark (90%) Very frequent (99-80%) HP:0003528
42 cerebral venous thrombosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005305
43 narrow vertebral interpedicular distance 59 32 hallmark (90%) Very frequent (99-80%) HP:0008450
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
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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