ACRDYS1
MCID: ACR110
MIFTS: 34

Acrodysostosis 1 with or Without Hormone Resistance (ACRDYS1)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Acrodysostosis 1 with or Without Hormone Resistance

MalaCards integrated aliases for Acrodysostosis 1 with or Without Hormone Resistance:

Name: Acrodysostosis 1 with or Without Hormone Resistance 57 29 6 70
Acrodysostosis 1, with or Without Hormone Resistance 57 72 13
Acrdys1 57 72
Adohr 57 72
Maroteaux-Malamut Syndrome 72
Arkless-Graham Syndrome 72
Acrodysostosis 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
epiphyseal stippling is gone by 8 months of age
majority of cases are sporadic
associated with advanced paternal age
not all patients have facial dysmorphism


HPO:

31
acrodysostosis 1 with or without hormone resistance:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Acrodysostosis 1 with or Without Hormone Resistance

OMIM® : 57 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, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). (101800) (Updated 20-May-2021)

MalaCards based summary : Acrodysostosis 1 with or Without Hormone Resistance, also known as acrodysostosis 1, with or without hormone resistance, is related to acrodysostosis and acrodysostosis 2 with or without hormone resistance. An important gene associated with Acrodysostosis 1 with or Without Hormone Resistance is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha). Affiliated tissues include bone and thyroid, and related phenotypes are hearing impairment and depressed nasal bridge

UniProtKB/Swiss-Prot : 72 Acrodysostosis 1, with or without hormone resistance: 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, growth hormone-releasing hormone, and gonadotropin. However, not all patients show endocrine abnormalities.

Related Diseases for Acrodysostosis 1 with or Without Hormone Resistance

Graphical network of the top 20 diseases related to Acrodysostosis 1 with or Without Hormone Resistance:



Diseases related to Acrodysostosis 1 with or Without Hormone Resistance

Symptoms & Phenotypes for Acrodysostosis 1 with or Without Hormone Resistance

Human phenotypes related to Acrodysostosis 1 with or Without Hormone Resistance:

31 (show all 50)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 very rare (1%) HP:0000365
2 depressed nasal bridge 31 very rare (1%) HP:0005280
3 mandibular prognathia 31 very rare (1%) HP:0000303
4 short stature 31 very rare (1%) HP:0004322
5 epiphyseal stippling 31 very rare (1%) HP:0010655
6 cryptorchidism 31 very rare (1%) HP:0000028
7 intrauterine growth retardation 31 very rare (1%) HP:0001511
8 hypoplasia of the maxilla 31 very rare (1%) HP:0000327
9 brachydactyly 31 very rare (1%) HP:0001156
10 midface retrusion 31 very rare (1%) HP:0011800
11 short metacarpal 31 very rare (1%) HP:0010049
12 accelerated skeletal maturation 31 very rare (1%) HP:0005616
13 unilateral renal agenesis 31 very rare (1%) HP:0000122
14 short palm 31 very rare (1%) HP:0004279
15 mild global developmental delay 31 very rare (1%) HP:0011342
16 cone-shaped epiphyses of the phalanges of the hand 31 very rare (1%) HP:0010230
17 small for gestational age 31 very rare (1%) HP:0001518
18 short phalanx of finger 31 very rare (1%) HP:0009803
19 congenital hypothyroidism 31 very rare (1%) HP:0000851
20 short metatarsal 31 very rare (1%) HP:0010743
21 hyperphosphatemia 31 very rare (1%) HP:0002905
22 elevated circulating parathyroid hormone level 31 very rare (1%) HP:0003165
23 elevated calcitonin 31 very rare (1%) HP:0003528
24 narrow vertebral interpedicular distance 31 very rare (1%) HP:0008450
25 increased thyroid-stimulating hormone level 31 very rare (1%) HP:0002925
26 intellectual disability 31 HP:0001249
27 scoliosis 31 HP:0002650
28 hydrocephalus 31 HP:0000238
29 hypertelorism 31 HP:0000316
30 dental malocclusion 31 HP:0000689
31 optic atrophy 31 HP:0000648
32 brachycephaly 31 HP:0000248
33 strabismus 31 HP:0000486
34 epicanthus 31 HP:0000286
35 melanocytic nevus 31 HP:0000995
36 blue irides 31 HP:0000635
37 delayed eruption of teeth 31 HP:0000684
38 spinal canal stenosis 31 HP:0003416
39 hypodontia 31 HP:0000668
40 disproportionate short-limb short stature 31 HP:0008873
41 broad palm 31 HP:0001169
42 calvarial hyperostosis 31 HP:0004490
43 hypogonadism 31 HP:0000135
44 hypoplastic vertebral bodies 31 HP:0008479
45 long hallux 31 HP:0001847
46 dislocated radial head 31 HP:0003083
47 broad nasal tip 31 HP:0000455
48 irregular menstruation 31 HP:0000858
49 mild postnatal growth retardation 31 HP:0001530
50 neonatal epiphyseal stippling 31 HP:0005756

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
spinal canal stenosis
narrow interpediculate distances
small vertebrae

Head And Neck Eyes:
hypertelorism
optic atrophy
strabismus
epicanthal folds
blue eyes (japanese patients)

Head And Neck Head:
brachycephaly

Head And Neck Teeth:
hypodontia
malocclusion
delayed tooth eruption

Endocrine Features:
hypogonadism
multiple hormone resistance
irregular menses

Head And Neck Ears:
hearing loss

Growth Other:
growth retardation, mild to moderate, prenatal onset

Skeletal Limbs:
radial head dislocation

Skeletal Feet:
large halluces
short metatarsals

Laboratory Abnormalities:
increased serum parathyroid hormone
low or normal serum calcium
normal or increased serum phosphate
increased urinary camp excretion
increased serum thyrotropin
more
Neurologic Central Nervous System:
hydrocephalus
mental retardation (iq 24-85) (variable)

Growth Height:
short stature
brachymelic dwarfism (upper limbs greater than lower limbs)

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Skull:
calvarial hyperostosis
hypoplastic maxilla

Head And Neck Nose:
low nasal bridge
broad, upturned nose
dimpled nasal tip

Head And Neck Face:
prognathism
hypoplastic maxilla

Skeletal:
advanced bone age
epiphyseal stippling in neonates (lumbosacral and cervical bodies, carpus, tarsus, proximal humerus, terminal phalanges, knees, hips)

Skeletal Hands:
short, broad hands
short metacarpals
short phalanges
cone-shaped epiphyses

Skin Nails Hair Skin:
dorsal hand wrinkling
pigmented nevi

Clinical features from OMIM®:

101800 (Updated 20-May-2021)

Drugs & Therapeutics for Acrodysostosis 1 with or Without Hormone Resistance

Search Clinical Trials , NIH Clinical Center for Acrodysostosis 1 with or Without Hormone Resistance

Genetic Tests for Acrodysostosis 1 with or Without Hormone Resistance

Genetic tests related to Acrodysostosis 1 with or Without Hormone Resistance:

# Genetic test Affiliating Genes
1 Acrodysostosis 1 with or Without Hormone Resistance 29 PRKAR1A

Anatomical Context for Acrodysostosis 1 with or Without Hormone Resistance

MalaCards organs/tissues related to Acrodysostosis 1 with or Without Hormone Resistance:

40
Bone, Thyroid

Publications for Acrodysostosis 1 with or Without Hormone Resistance

Articles related to Acrodysostosis 1 with or Without Hormone Resistance:

(show all 19)
# Title Authors PMID Year
1
Exome sequencing identifies PDE4D mutations in acrodysostosis. 57 6
22464252 2012
2
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. 57 6
22464250 2012
3
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. 6 57
21651393 2011
4
Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. 57 6
11200992 2001
5
Novel mutations of the PRKAR1A gene in patients with acrodysostosis. 6
23425300 2013
6
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. 6
23043190 2012
7
Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis. 57
9039990 1997
8
Autosomal dominant transmission of acrodysostosis. 57
1342871 1992
9
Acrodysostosis in two generations: an autosomal dominant syndrome. 57
1860254 1991
10
Epiphyseal stippling in acrodysostosis. 57
2012131 1991
11
Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis. 57
3055990 1988
12
Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblings. 57
669707 1978
13
Older paternal age and fresh gene mutation: data on additional disorders. 57
1110452 1975
14
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. 57
5551869 1971
15
[Acrodysostosis]. 57
5305130 1968
16
An unusual case of brachydactyly. Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone epiphyses? 57
6020652 1967
17
Legg-Calve-Perthes disease in an 8-year old girl with Acrodysostosis type 1 on growth hormone therapy: case report. 61
32782451 2020
18
Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis. 61
27589370 2017
19
Structure of a PKA RI╬▒ Recurrent Acrodysostosis Mutant Explains Defective cAMP-Dependent Activation. 61
27825928 2016

Variations for Acrodysostosis 1 with or Without Hormone Resistance

ClinVar genetic disease variations for Acrodysostosis 1 with or Without Hormone Resistance:

6 (show top 50) (show all 115)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.980T>C (p.Ile327Thr) SNV Pathogenic 29910 rs387906695 GRCh37: 17:66526424-66526424
GRCh38: 17:68530283-68530283
2 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.1004G>C (p.Arg335Pro) SNV Pathogenic 29909 rs387906694 GRCh37: 17:66526448-66526448
GRCh38: 17:68530307-68530307
3 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.1117T>C (p.Tyr373His) SNV Pathogenic 29908 rs387906693 GRCh37: 17:66526561-66526561
GRCh38: 17:68530420-68530420
4 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.1102C>T (p.Arg368Ter) SNV Pathogenic 29907 rs387906692 GRCh37: 17:66526546-66526546
GRCh38: 17:68530405-68530405
5 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.1003C>T (p.Arg335Cys) SNV Likely pathogenic 433148 rs1555815121 GRCh37: 17:66526447-66526447
GRCh38: 17:68530306-68530306
6 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.1003C>T (p.Arg335Cys) SNV Likely pathogenic 433148 rs1555815121 GRCh37: 17:66526447-66526447
GRCh38: 17:68530306-68530306
7 PRKAR1A NM_212472.2(PRKAR1A):c.620A>G (p.Tyr207Cys) SNV Likely pathogenic 638687 rs1600486197 GRCh37: 17:66521965-66521965
GRCh38: 17:68525824-68525824
8 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*1839G>A SNV Uncertain significance 324814 rs886053316 GRCh37: 17:66528429-66528429
GRCh38: 17:68532288-68532288
9 PRKAR1A NM_212472.2(PRKAR1A):c.-47C>A SNV Uncertain significance 324779 rs886053305 GRCh37: 17:66508680-66508680
GRCh38: 17:68512539-68512539
10 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*587del Deletion Uncertain significance 324791 rs398041821 GRCh37: 17:66527167-66527167
GRCh38: 17:68531026-68531026
11 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*722A>G SNV Uncertain significance 324794 rs555951287 GRCh37: 17:66527312-66527312
GRCh38: 17:68531171-68531171
12 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*1487C>T SNV Uncertain significance 324809 rs886053314 GRCh37: 17:66528077-66528077
GRCh38: 17:68531936-68531936
13 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*893G>C SNV Uncertain significance 324801 rs186568426 GRCh37: 17:66527483-66527483
GRCh38: 17:68531342-68531342
14 PRKAR1A NM_212472.2(PRKAR1A):c.-56C>T SNV Uncertain significance 324778 rs546338099 GRCh37: 17:66508671-66508671
GRCh38: 17:68512530-68512530
15 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*1346A>G SNV Uncertain significance 324808 rs545417998 GRCh37: 17:66527936-66527936
GRCh38: 17:68531795-68531795
16 PDE4D NM_001104631.2(PDE4D):c.*2028_*2031TAGA[3] Microsatellite Uncertain significance 353951 rs780381459 GRCh37: 5:58268455-58268456
GRCh38: 5:58972628-58972629
17 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*724T>A SNV Uncertain significance 324795 rs746409603 GRCh37: 17:66527314-66527314
GRCh38: 17:68531173-68531173
18 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*2072G>A SNV Uncertain significance 324818 rs886053319 GRCh37: 17:66528662-66528662
GRCh38: 17:68532521-68532521
19 PDE4D NM_001104631.2(PDE4D):c.*5190A>G SNV Uncertain significance 353912 rs886060701 GRCh37: 5:58265301-58265301
GRCh38: 5:58969474-58969474
20 PDE4D NM_001104631.2(PDE4D):c.*4274_*4278ATTTT[4] Microsatellite Uncertain significance 353924 rs766825126 GRCh37: 5:58266193-58266197
GRCh38: 5:58970366-58970370
21 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*1014A>G SNV Uncertain significance 324802 rs886053311 GRCh37: 17:66527604-66527604
GRCh38: 17:68531463-68531463
22 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*1168A>T SNV Uncertain significance 324805 rs886053313 GRCh37: 17:66527758-66527758
GRCh38: 17:68531617-68531617
23 PDE4D NM_001104631.2(PDE4D):c.*2166del Deletion Uncertain significance 353949 rs747331829 GRCh37: 5:58268325-58268325
GRCh38: 5:58972498-58972498
24 PDE4D NM_001104631.2(PDE4D):c.1189-21dup Duplication Uncertain significance 353994 rs368587062 GRCh37: 5:58286737-58286738
GRCh38: 5:58990910-58990911
25 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*156C>T SNV Uncertain significance 324786 rs535007635 GRCh37: 17:66526746-66526746
GRCh38: 17:68530605-68530605
26 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*2018C>T SNV Uncertain significance 324816 rs540185706 GRCh37: 17:66528608-66528608
GRCh38: 17:68532467-68532467
27 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*1842A>T SNV Uncertain significance 324815 rs886053317 GRCh37: 17:66528432-66528432
GRCh38: 17:68532291-68532291
28 PRKAR1A NM_212472.2(PRKAR1A):c.-84C>T SNV Uncertain significance 324777 rs886053304 GRCh37: 17:66508643-66508643
GRCh38: 17:68512502-68512502
29 PDE4D NM_001104631.2(PDE4D):c.*33dup Duplication Uncertain significance 353983 rs10718401 GRCh37: 5:58270457-58270458
GRCh38: 5:58974630-58974631
30 PRKAR1A NM_212472.2(PRKAR1A):c.309G>A (p.Glu103=) SNV Uncertain significance 324782 rs746113372 GRCh37: 17:66519028-66519028
GRCh38: 17:68522887-68522887
31 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*704T>G SNV Uncertain significance 324793 rs886053310 GRCh37: 17:66527294-66527294
GRCh38: 17:68531153-68531153
32 PDE4D NM_001104631.2(PDE4D):c.*3754_*3755dup Duplication Uncertain significance 353929 rs34128632 GRCh37: 5:58266735-58266736
GRCh38: 5:58970908-58970909
33 PDE4D NM_001104631.2(PDE4D):c.*1020_*1022dup Duplication Uncertain significance 353972 rs886060711 GRCh37: 5:58269468-58269469
GRCh38: 5:58973641-58973642
34 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*526G>A SNV Uncertain significance 324789 rs886053308 GRCh37: 17:66527116-66527116
GRCh38: 17:68530975-68530975
35 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*2196C>T SNV Uncertain significance 324820 rs886053320 GRCh37: 17:66528786-66528786
GRCh38: 17:68532645-68532645
36 PDE4D NM_001104631.2(PDE4D):c.*3165_*3166del Deletion Uncertain significance 353934 rs760712576 GRCh37: 5:58267325-58267326
GRCh38: 5:58971498-58971499
37 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*1118dup Duplication Uncertain significance 324804 rs886053312 GRCh37: 17:66527701-66527702
GRCh38: 17:68531560-68531561
38 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*1062A>G SNV Uncertain significance 324803 rs752303671 GRCh37: 17:66527652-66527652
GRCh38: 17:68531511-68531511
39 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*2197G>A SNV Uncertain significance 324821 rs533508012 GRCh37: 17:66528787-66528787
GRCh38: 17:68532646-68532646
40 PDE4D NM_001104631.2(PDE4D):c.*348_*351del Deletion Uncertain significance 353982 rs35684984 GRCh37: 5:58270140-58270143
GRCh38: 5:58974313-58974316
41 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*389T>G SNV Uncertain significance 324788 rs886053307 GRCh37: 17:66526979-66526979
GRCh38: 17:68530838-68530838
42 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*1687T>C SNV Uncertain significance 891530 GRCh37: 17:66528277-66528277
GRCh38: 17:68532136-68532136
43 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*2067T>C SNV Uncertain significance 324817 rs886053318 GRCh37: 17:66528657-66528657
GRCh38: 17:68532516-68532516
44 PDE4D NM_001104631.2(PDE4D):c.*582dup Duplication Uncertain significance 353979 rs886060714 GRCh37: 5:58269908-58269909
GRCh38: 5:58974081-58974082
45 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*1003C>T SNV Uncertain significance 891448 GRCh37: 17:66527593-66527593
GRCh38: 17:68531452-68531452
46 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*609C>G SNV Uncertain significance 891389 GRCh37: 17:66527199-66527199
GRCh38: 17:68531058-68531058
47 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*560G>A SNV Uncertain significance 891388 GRCh37: 17:66527150-66527150
GRCh38: 17:68531009-68531009
48 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*535T>G SNV Uncertain significance 891387 GRCh37: 17:66527125-66527125
GRCh38: 17:68530984-68530984
49 PRKAR1A NM_002734.5(PRKAR1A):c.-11C>T SNV Uncertain significance 833813 GRCh37: 17:66508685-66508685
GRCh38: 17:68512544-68512544
50 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*2152T>C SNV Uncertain significance 890029 GRCh37: 17:66528742-66528742
GRCh38: 17:68532601-68532601

UniProtKB/Swiss-Prot genetic disease variations for Acrodysostosis 1 with or Without Hormone Resistance:

72 (show all 11)
# Symbol AA change Variation ID SNP ID
1 PRKAR1A p.Tyr373His VAR_068241 rs387906693
2 PRKAR1A p.Ala213Thr VAR_069456
3 PRKAR1A p.Thr239Ala VAR_069458
4 PRKAR1A p.Gln285Arg VAR_069459 rs155581471
5 PRKAR1A p.Gly289Glu VAR_069460
6 PRKAR1A p.Ile327Thr VAR_069461 rs387906695
7 PRKAR1A p.Ala328Val VAR_069462
8 PRKAR1A p.Arg335Pro VAR_069463 rs387906694
9 PRKAR1A p.Arg335Leu VAR_069464
10 PRKAR1A p.Tyr373Cys VAR_069465
11 PRKAR1A p.Tyr175Cys VAR_075533

Expression for Acrodysostosis 1 with or Without Hormone Resistance

Search GEO for disease gene expression data for Acrodysostosis 1 with or Without Hormone Resistance.

Pathways for Acrodysostosis 1 with or Without Hormone Resistance

GO Terms for Acrodysostosis 1 with or Without Hormone Resistance

Sources for Acrodysostosis 1 with or Without 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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