MCID: ACR079
MIFTS: 32

Acrodysostosis with Multiple Hormone Resistance

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

Aliases & Classifications for Acrodysostosis with Multiple Hormone Resistance

MalaCards integrated aliases for Acrodysostosis with Multiple Hormone Resistance:

Name: Acrodysostosis with Multiple Hormone Resistance 58

Characteristics:

Orphanet epidemiological data:

58
acrodysostosis with multiple hormone resistance
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Acrodysostosis with Multiple Hormone Resistance

MalaCards based summary : Acrodysostosis with Multiple Hormone Resistance is related to myxoma, intracardiac and pigmented nodular adrenocortical disease, primary, 1. An important gene associated with Acrodysostosis with Multiple Hormone Resistance is PDE4D (Phosphodiesterase 4D), and among its related pathways/superpathways are ADP signalling through P2Y purinoceptor 12 and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include bone and smooth muscle, and related phenotypes are pseudohypoparathyroidism and intellectual disability

Related Diseases for Acrodysostosis with Multiple Hormone Resistance

Graphical network of the top 20 diseases related to Acrodysostosis with Multiple Hormone Resistance:



Diseases related to Acrodysostosis with Multiple Hormone Resistance

Symptoms & Phenotypes for Acrodysostosis with Multiple Hormone Resistance

Human phenotypes related to Acrodysostosis with Multiple Hormone Resistance:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pseudohypoparathyroidism 58 31 obligate (100%) Obligate (100%) HP:0000852
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
5 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
6 increased intracranial pressure 58 31 hallmark (90%) Very frequent (99-80%) HP:0002516
7 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
8 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
9 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
10 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
11 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
12 short toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001831
13 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
14 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
15 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
16 hypocalcemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002901
17 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
18 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
19 short metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010049
20 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
21 cone-shaped epiphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010579
22 hypoplastic vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0008479
23 short phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009803
24 congenital hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000851
25 short metatarsal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010743
26 congenital craniofacial dysostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008497
27 hyperphosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002905
28 elevated circulating parathyroid hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003165
29 elevated calcitonin 58 31 hallmark (90%) Very frequent (99-80%) HP:0003528
30 hypoplasia of the nasal bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0004646
31 cerebral venous thrombosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005305
32 absent/hypoplastic paranasal sinuses 58 31 hallmark (90%) Very frequent (99-80%) HP:0005453
33 narrow vertebral interpedicular distance 58 31 hallmark (90%) Very frequent (99-80%) HP:0008450
34 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
35 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
36 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
37 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
38 spinal canal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0003416
39 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
40 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
41 mild short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003502
42 decreased response to growth hormone stimuation test 31 frequent (33%) HP:0000824
43 blue irides 58 31 occasional (7.5%) Occasional (29-5%) HP:0000635
44 red hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002297
45 fair hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002286
46 growth hormone deficiency 58 Frequent (79-30%)
47 low urinary cyclic amp response to pth administration 58 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:

40
Bone, Smooth Muscle

Publications for Acrodysostosis with Multiple Hormone Resistance

Articles related to Acrodysostosis with Multiple Hormone Resistance:

# Title Authors PMID Year
1
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. 6
24203977 2014
2
Novel mutations of the PRKAR1A gene in patients with acrodysostosis. 6
23425300 2013
3
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. 6
23033274 2013
4
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. 6
23043190 2012
5
Exome sequencing identifies PDE4D mutations in acrodysostosis. 6
22464252 2012
6
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. 6
22464250 2012
7
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. 6
21651393 2011
8
Expression, intracellular distribution and basis for lack of catalytic activity of the PDE4A7 isoform encoded by the human PDE4A cAMP-specific phosphodiesterase gene. 6
15025561 2004
9
Cyclic AMP-dependent transcriptional up-regulation of phosphodiesterase 4D5 in human airway smooth muscle cells. Identification and characterization of a novel PDE4D5 promoter. 6
12121997 2002
10
Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. 6
11200992 2001

Variations for Acrodysostosis with Multiple Hormone Resistance

ClinVar genetic disease variations for Acrodysostosis with Multiple Hormone Resistance:

6 (show top 50) (show all 219)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDE4D NM_001104631.2(PDE4D):c.673C>A (p.Pro225Thr) SNV Pathogenic 30035 rs397514464 GRCh37: 5:58489337-58489337
GRCh38: 5:59193511-59193511
2 PDE4D NM_001104631.2(PDE4D):c.677T>C (p.Phe226Ser) SNV Pathogenic 30036 rs397514465 GRCh37: 5:58489333-58489333
GRCh38: 5:59193507-59193507
3 PDE4D NM_001104631.2(PDE4D):c.568T>G (p.Ser190Ala) SNV Pathogenic 30037 rs397514466 GRCh37: 5:58511682-58511682
GRCh38: 5:59215856-59215856
4 PDE4D NM_001104631.2(PDE4D):c.1759A>C (p.Thr587Pro) SNV Pathogenic 30038 rs397514467 GRCh37: 5:58272248-58272248
GRCh38: 5:58976421-58976421
5 PDE4D NM_001104631.2(PDE4D):c.682C>G (p.Gln228Glu) SNV Pathogenic 30039 rs397514468 GRCh37: 5:58489328-58489328
GRCh38: 5:59193502-59193502
6 PDE4D NM_001104631.2(PDE4D):c.1952A>C (p.Glu651Ala) SNV Pathogenic 30040 rs387906744 GRCh37: 5:58271545-58271545
GRCh38: 5:58975718-58975718
7 PDE4D NM_001104631.2(PDE4D):c.2018G>A (p.Gly673Asp) SNV Pathogenic 30041 rs397514469 GRCh37: 5:58270903-58270903
GRCh38: 5:58975076-58975076
8 PDE4D NM_001104631.2(PDE4D):c.911C>T (p.Ala304Val) SNV Pathogenic 40064 rs397515433 GRCh37: 5:58334696-58334696
GRCh38: 5:59038869-59038869
9 PDE4D NM_001104631.2(PDE4D):c.677T>G (p.Phe226Cys) SNV Pathogenic 101052 rs397514465 GRCh37: 5:58489333-58489333
GRCh38: 5:59193507-59193507
10 PDE4D NM_001104631.2(PDE4D):c.2033T>C (p.Ile678Thr) SNV Pathogenic 101053 rs587777188 GRCh37: 5:58270888-58270888
GRCh38: 5:58975061-58975061
11 PDE4D NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val) SNV Pathogenic 436281 rs1554033934 GRCh37: 5:58272245-58272245
GRCh38: 5:58976418-58976418
12 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.1102C>T (p.Arg368Ter) SNV Pathogenic 29907 rs387906692 GRCh37: 17:66526546-66526546
GRCh38: 17:68530405-68530405
13 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.1117T>C (p.Tyr373His) SNV Pathogenic 29908 rs387906693 GRCh37: 17:66526561-66526561
GRCh38: 17:68530420-68530420
14 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.1004G>C (p.Arg335Pro) SNV Pathogenic 29909 rs387906694 GRCh37: 17:66526448-66526448
GRCh38: 17:68530307-68530307
15 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.980T>C (p.Ile327Thr) SNV Pathogenic 29910 rs387906695 GRCh37: 17:66526424-66526424
GRCh38: 17:68530283-68530283
16 PDE4D NM_001104631.2(PDE4D):c.569C>T (p.Ser190Phe) SNV Likely pathogenic 982782 GRCh37: 5:58511681-58511681
GRCh38: 5:59215855-59215855
17 PDE4D NM_001104631.2(PDE4D):c.2051A>G (p.Glu684Gly) SNV Likely pathogenic 989238 GRCh37: 5:58270870-58270870
GRCh38: 5:58975043-58975043
18 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.1003C>T (p.Arg335Cys) SNV Likely pathogenic 433148 rs1555815121 GRCh37: 17:66526447-66526447
GRCh38: 17:68530306-68530306
19 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.1003C>T (p.Arg335Cys) SNV Likely pathogenic 433148 rs1555815121 GRCh37: 17:66526447-66526447
GRCh38: 17:68530306-68530306
20 PRKAR1A NM_212472.2(PRKAR1A):c.620A>G (p.Tyr207Cys) SNV Likely pathogenic 638687 rs1600486197 GRCh37: 17:66521965-66521965
GRCh38: 17:68525824-68525824
21 PRKAR1A NM_212472.2(PRKAR1A):c.-47C>A SNV Uncertain significance 324779 rs886053305 GRCh37: 17:66508680-66508680
GRCh38: 17:68512539-68512539
22 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*722A>G SNV Uncertain significance 324794 rs555951287 GRCh37: 17:66527312-66527312
GRCh38: 17:68531171-68531171
23 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*1839G>A SNV Uncertain significance 324814 rs886053316 GRCh37: 17:66528429-66528429
GRCh38: 17:68532288-68532288
24 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*1062A>G SNV Uncertain significance 324803 rs752303671 GRCh37: 17:66527652-66527652
GRCh38: 17:68531511-68531511
25 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*2196C>T SNV Uncertain significance 324820 rs886053320 GRCh37: 17:66528786-66528786
GRCh38: 17:68532645-68532645
26 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*526G>A SNV Uncertain significance 324789 rs886053308 GRCh37: 17:66527116-66527116
GRCh38: 17:68530975-68530975
27 PRKAR1A NM_212472.2(PRKAR1A):c.-56C>T SNV Uncertain significance 324778 rs546338099 GRCh37: 17:66508671-66508671
GRCh38: 17:68512530-68512530
28 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*893G>C SNV Uncertain significance 324801 rs186568426 GRCh37: 17:66527483-66527483
GRCh38: 17:68531342-68531342
29 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*1487C>T SNV Uncertain significance 324809 rs886053314 GRCh37: 17:66528077-66528077
GRCh38: 17:68531936-68531936
30 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*299T>G SNV Uncertain significance 889161 GRCh37: 17:66526889-66526889
GRCh38: 17:68530748-68530748
31 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*331G>A SNV Uncertain significance 889841 GRCh37: 17:66526921-66526921
GRCh38: 17:68530780-68530780
32 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*384C>T SNV Uncertain significance 889842 GRCh37: 17:66526974-66526974
GRCh38: 17:68530833-68530833
33 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*1640C>T SNV Uncertain significance 889965 GRCh37: 17:66528230-66528230
GRCh38: 17:68532089-68532089
34 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*2089A>G SNV Uncertain significance 890027 GRCh37: 17:66528679-66528679
GRCh38: 17:68532538-68532538
35 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*2114G>A SNV Uncertain significance 890028 GRCh37: 17:66528704-66528704
GRCh38: 17:68532563-68532563
36 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*2152T>C SNV Uncertain significance 890029 GRCh37: 17:66528742-66528742
GRCh38: 17:68532601-68532601
37 PRKAR1A NM_002734.5(PRKAR1A):c.-11C>T SNV Uncertain significance 833813 GRCh37: 17:66508685-66508685
GRCh38: 17:68512544-68512544
38 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*233C>T SNV Uncertain significance 889160 GRCh37: 17:66526823-66526823
GRCh38: 17:68530682-68530682
39 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*812A>G SNV Uncertain significance 889222 GRCh37: 17:66527402-66527402
GRCh38: 17:68531261-68531261
40 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*1949G>T SNV Uncertain significance 889340 GRCh37: 17:66528539-66528539
GRCh38: 17:68532398-68532398
41 PRKAR1A NM_212472.2(PRKAR1A):c.-200T>A SNV Uncertain significance 889722 GRCh37: 17:66508527-66508527
GRCh38: 17:68512386-68512386
42 PRKAR1A NM_212472.2(PRKAR1A):c.331G>A (p.Ala111Thr) SNV Uncertain significance 579659 rs1472324247 GRCh37: 17:66519050-66519050
GRCh38: 17:68522909-68522909
43 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*535T>G SNV Uncertain significance 891387 GRCh37: 17:66527125-66527125
GRCh38: 17:68530984-68530984
44 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*560G>A SNV Uncertain significance 891388 GRCh37: 17:66527150-66527150
GRCh38: 17:68531009-68531009
45 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*609C>G SNV Uncertain significance 891389 GRCh37: 17:66527199-66527199
GRCh38: 17:68531058-68531058
46 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*1003C>T SNV Uncertain significance 891448 GRCh37: 17:66527593-66527593
GRCh38: 17:68531452-68531452
47 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*1687T>C SNV Uncertain significance 891530 GRCh37: 17:66528277-66528277
GRCh38: 17:68532136-68532136
48 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*1085G>A SNV Uncertain significance 891709 GRCh37: 17:66527675-66527675
GRCh38: 17:68531534-68531534
49 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*1111C>G SNV Uncertain significance 891710 GRCh37: 17:66527701-66527701
GRCh38: 17:68531560-68531560
50 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*1838A>T SNV Uncertain significance 891771 GRCh37: 17:66528428-66528428
GRCh38: 17:68532287-68532287

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
11.82 PRKAR1A PDE4D
2
Show member pathways
11.75 PRKAR1A PDE4D
3
Show member pathways
11.38 PRKAR1A PDE4D
4
Show member pathways
10.91 PRKAR1A PDE4D
5 10.56 PRKAR1A PDE4D

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 PRKAR1A PDE4D

Sources for Acrodysostosis with Multiple Hormone Resistance

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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