MCID: ACR079
MIFTS: 23

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 pseudohypoparathyroidism and malar flattening

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 9.7 PDE4D PRKAR1A
2 albright's hereditary osteodystrophy 9.6 PDE4D PRKAR1A
3 brachydactyly 9.5 PDE4D PRKAR1A

Symptoms & Phenotypes for Acrodysostosis with Multiple Hormone Resistance

Human phenotypes related to Acrodysostosis with Multiple Hormone Resistance:

60 33 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pseudohypoparathyroidism 60 33 obligate (100%) Obligate (100%) HP:0000852
2 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
3 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
4 mandibular prognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000303
5 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
6 increased intracranial pressure 60 33 hallmark (90%) Very frequent (99-80%) HP:0002516
7 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
8 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
9 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
10 cone-shaped epiphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0010579
11 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
12 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
13 specific learning disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001328
14 short toe 60 33 hallmark (90%) Very frequent (99-80%) HP:0001831
15 hypospadias 60 33 hallmark (90%) Very frequent (99-80%) HP:0000047
16 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
17 round face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000311
18 hypocalcemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002901
19 elevated circulating parathyroid hormone level 60 33 hallmark (90%) Very frequent (99-80%) HP:0003165
20 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011800
21 short metacarpal 60 33 hallmark (90%) Very frequent (99-80%) HP:0010049
22 accelerated skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0005616
23 hypoplastic vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0008479
24 short phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009803
25 hyperphosphatemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002905
26 short metatarsal 60 33 hallmark (90%) Very frequent (99-80%) HP:0010743
27 congenital hypothyroidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000851
28 congenital craniofacial dysostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008497
29 absent/hypoplastic paranasal sinuses 60 33 hallmark (90%) Very frequent (99-80%) HP:0005453
30 hypoplasia of the nasal bone 60 33 hallmark (90%) Very frequent (99-80%) HP:0004646
31 cerebral venous thrombosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005305
32 elevated calcitonin 60 33 hallmark (90%) Very frequent (99-80%) HP:0003528
33 narrow vertebral interpedicular distance 60 33 hallmark (90%) Very frequent (99-80%) HP:0008450
34 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
35 diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0000819
36 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
37 autism 60 33 frequent (33%) Frequent (79-30%) HP:0000717
38 hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000135
39 spinal canal stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0003416
40 hyperactivity 60 33 frequent (33%) Frequent (79-30%) HP:0000752
41 mild short stature 60 33 frequent (33%) Frequent (79-30%) HP:0003502
42 growth hormone deficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000824
43 blue irides 60 33 occasional (7.5%) Occasional (29-5%) HP:0000635
44 fair hair 60 33 occasional (7.5%) Occasional (29-5%) HP:0002286
45 red hair 60 33 occasional (7.5%) Occasional (29-5%) HP:0002297
46 low urinary cyclic amp response to pth administration 60 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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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