ACRDYS1
MCID: ACR110
MIFTS: 30

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 58 30 6 74
Acrodysostosis 1, with or Without Hormone Resistance 58 76 13
Acrdys1 58 76
Adohr 58 76
Maroteaux-Malamut Syndrome 76
Arkless-Graham Syndrome 76
Acrodysostosis 74

Characteristics:

OMIM:

58
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:

33
acrodysostosis 1 with or without hormone resistance:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Acrodysostosis 1 with or Without Hormone Resistance

OMIM : 58 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)

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 eye, and related phenotypes are hypertelorism and hydrocephalus

UniProtKB/Swiss-Prot : 76 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

Diseases in the Acrodysostosis 1 with or Without Hormone Resistance family:

Acrodysostosis 2 with or Without Hormone Resistance

Diseases related to Acrodysostosis 1 with or Without Hormone Resistance via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acrodysostosis 31.9 FAM20A PRKAR1A
2 acrodysostosis 2 with or without hormone resistance 11.2

Symptoms & Phenotypes for Acrodysostosis 1 with or Without Hormone Resistance

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

33 (show all 38)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 hydrocephalus 33 HP:0000238
3 intellectual disability 33 HP:0001249
4 scoliosis 33 HP:0002650
5 mandibular prognathia 33 HP:0000303
6 hearing impairment 33 HP:0000365
7 dental malocclusion 33 HP:0000689
8 depressed nasal bridge 33 HP:0005280
9 optic atrophy 33 HP:0000648
10 brachycephaly 33 HP:0000248
11 strabismus 33 HP:0000486
12 delayed eruption of teeth 33 HP:0000684
13 short palm 33 HP:0004279
14 epicanthus 33 HP:0000286
15 cryptorchidism 33 HP:0000028
16 melanocytic nevus 33 HP:0000995
17 hypogonadism 33 HP:0000135
18 hypoplasia of the maxilla 33 HP:0000327
19 blue irides 33 HP:0000635
20 broad nasal tip 33 HP:0000455
21 elevated circulating parathyroid hormone level 33 HP:0003165
22 spinal canal stenosis 33 HP:0003416
23 hypodontia 33 HP:0000668
24 disproportionate short-limb short stature 33 HP:0008873
25 short metacarpal 33 HP:0010049
26 accelerated skeletal maturation 33 HP:0005616
27 broad palm 33 HP:0001169
28 calvarial hyperostosis 33 HP:0004490
29 hypoplastic vertebral bodies 33 HP:0008479
30 long hallux 33 HP:0001847
31 cone-shaped epiphyses of the phalanges of the hand 33 HP:0010230
32 short phalanx of finger 33 HP:0009803
33 dislocated radial head 33 HP:0003083
34 menstrual irregularities 33 HP:0000858
35 short metatarsal 33 HP:0010743
36 mild postnatal growth retardation 33 HP:0001530
37 narrow vertebral interpedicular distance 33 HP:0008450
38 neonatal epiphyseal stippling 33 HP:0005756

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
optic atrophy
strabismus
epicanthal folds
blue eyes (japanese patients)

Skeletal Spine:
scoliosis
spinal canal stenosis
narrow interpediculate distances
small vertebrae

Head And Neck Head:
brachycephaly

Endocrine Features:
hypogonadism
multiple hormone resistance
irregular menses

Skeletal Skull:
calvarial hyperostosis
hypoplastic maxilla

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

Head And Neck Teeth:
hypodontia
malocclusion
delayed tooth eruption

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

MGI Mouse Phenotypes related to Acrodysostosis 1 with or Without Hormone Resistance:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.96 FAM20A PRKAR1A
2 respiratory system MP:0005388 8.62 FAM20A PRKAR1A

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 30 PRKAR1A

Anatomical Context for Acrodysostosis 1 with or Without Hormone Resistance

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

42
Bone, Eye

Publications for Acrodysostosis 1 with or Without Hormone Resistance

Articles related to Acrodysostosis 1 with or Without Hormone Resistance:

# Title Authors Year
1
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. ( 22464250 )
2012
2
Exome sequencing identifies PDE4D mutations in acrodysostosis. ( 22464252 )
2012
3
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. ( 21651393 )
2011
4
Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. ( 11200992 )
2001

Variations for Acrodysostosis 1 with or Without Hormone Resistance

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

76 (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
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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKAR1A NM_002734.4(PRKAR1A): c.1102C> T (p.Arg368Ter) single nucleotide variant Pathogenic rs387906692 GRCh37 Chromosome 17, 66526546: 66526546
2 PRKAR1A NM_002734.4(PRKAR1A): c.1102C> T (p.Arg368Ter) single nucleotide variant Pathogenic rs387906692 GRCh38 Chromosome 17, 68530405: 68530405
3 PRKAR1A NM_002734.4(PRKAR1A): c.1117T> C (p.Tyr373His) single nucleotide variant Pathogenic rs387906693 GRCh37 Chromosome 17, 66526561: 66526561
4 PRKAR1A NM_002734.4(PRKAR1A): c.1117T> C (p.Tyr373His) single nucleotide variant Pathogenic rs387906693 GRCh38 Chromosome 17, 68530420: 68530420
5 PRKAR1A NM_002734.4(PRKAR1A): c.1004G> C (p.Arg335Pro) single nucleotide variant Pathogenic rs387906694 GRCh37 Chromosome 17, 66526448: 66526448
6 PRKAR1A NM_002734.4(PRKAR1A): c.1004G> C (p.Arg335Pro) single nucleotide variant Pathogenic rs387906694 GRCh38 Chromosome 17, 68530307: 68530307
7 PRKAR1A NM_002734.4(PRKAR1A): c.980T> C (p.Ile327Thr) single nucleotide variant Pathogenic rs387906695 GRCh37 Chromosome 17, 66526424: 66526424
8 PRKAR1A NM_002734.4(PRKAR1A): c.980T> C (p.Ile327Thr) single nucleotide variant Pathogenic rs387906695 GRCh38 Chromosome 17, 68530283: 68530283
9 PRKAR1A NM_002734.4(PRKAR1A): c.1003C> T (p.Arg335Cys) single nucleotide variant Likely pathogenic rs1555815121 GRCh38 Chromosome 17, 68530306: 68530306
10 PRKAR1A NM_002734.4(PRKAR1A): c.1003C> T (p.Arg335Cys) single nucleotide variant Likely pathogenic rs1555815121 GRCh37 Chromosome 17, 66526447: 66526447

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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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31 HGMD
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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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