ACRDYS2
MCID: ACR119
MIFTS: 27

Acrodysostosis 2 with or Without Hormone Resistance (ACRDYS2)

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

Aliases & Classifications for Acrodysostosis 2 with or Without Hormone Resistance

MalaCards integrated aliases for Acrodysostosis 2 with or Without Hormone Resistance:

Name: Acrodysostosis 2 with or Without Hormone Resistance 56 71
Acrodysostosis 2, with or Without Hormone Resistance 56 73 29 13 6
Acrdys2 56 73
Acrodysostosis, with/without Hormone Resistance, Type 2 39
Acrodysostosis 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth


HPO:

31
acrodysostosis 2 with or without hormone resistance:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Acrodysostosis 2 with or Without Hormone Resistance

UniProtKB/Swiss-Prot : 73 Acrodysostosis 2, with or without hormone resistance: A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems.

MalaCards based summary : Acrodysostosis 2 with or Without Hormone Resistance, is also known as acrodysostosis 2, with or without hormone resistance. An important gene associated with Acrodysostosis 2 with or Without Hormone Resistance is PDE4D (Phosphodiesterase 4D). Affiliated tissues include eye and bone, and related phenotypes are intellectual disability and diabetes mellitus

OMIM : 56 Acrodysostosis-2 is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012). For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (101800). (614613)

Related Diseases for Acrodysostosis 2 with or Without Hormone Resistance

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

Acrodysostosis 2 with or Without Hormone Resistance

Symptoms & Phenotypes for Acrodysostosis 2 with or Without Hormone Resistance

Human phenotypes related to Acrodysostosis 2 with or Without Hormone Resistance:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 hallmark (90%) HP:0001249
2 diabetes mellitus 31 occasional (7.5%) HP:0000819
3 intrauterine growth retardation 31 occasional (7.5%) HP:0001511
4 congenital hypothyroidism 31 occasional (7.5%) HP:0000851
5 mild short stature 31 occasional (7.5%) HP:0003502
6 malar flattening 31 HP:0000272
7 obesity 31 HP:0001513
8 mandibular prognathia 31 HP:0000303
9 global developmental delay 31 HP:0001263
10 increased intracranial pressure 31 HP:0002516
11 depressed nasal bridge 31 HP:0005280
12 delayed speech and language development 31 HP:0000750
13 short nose 31 HP:0003196
14 brachydactyly 31 HP:0001156
15 cryptorchidism 31 HP:0000028
16 short metacarpal 31 HP:0010049
17 anteverted nares 31 HP:0000463
18 midface retrusion 31 HP:0011800
19 hyperactivity 31 HP:0000752
20 cone-shaped epiphysis 31 HP:0010579
21 autism 31 HP:0000717
22 hypospadias 31 HP:0000047
23 blue irides 31 HP:0000635
24 round face 31 HP:0000311
25 spinal canal stenosis 31 HP:0003416
26 accelerated skeletal maturation 31 HP:0005616
27 short phalanx of finger 31 HP:0009803
28 short metatarsal 31 HP:0010743
29 red hair 31 HP:0002297
30 fair hair 31 HP:0002286

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias

Skin Nails Hair Hair:
red hair
blond hair

Skeletal Hands:
short metacarpals
short phalanges
cone-shaped epiphyses
brachydactyly, severe

Head And Neck Eyes:
blue eyes

Skeletal Spine:
spinal stenosis
lack of normal lumbar interpediculate flare

Growth Other:
intrauterine growth retardation (rare)

Endocrine Features:
increased serum pth, mild
diabetes mellitus (1 patient)
hypothyroidism, congenital (1 patient)

Head And Neck Nose:
depressed nasal bridge
anteverted nares
nasal hypoplasia

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autism

Head And Neck Face:
round face
midface hypoplasia
malar hypoplasia
prominent mandible
facial dysostosis
more
Skeletal:
advanced bone age
acrodysostosis

Skeletal Feet:
short phalanges
short metatarsals
brachydactyly, severe, with sparing of the big toe

Neurologic Central Nervous System:
delayed psychomotor development
learning disabilities
speech delay
intellectual disability (in most patients)

Growth Height:
short stature, mild (in some)

Cardiovascular Vascular:
intracranial hypertension (2 of 7 patients)
intracranial thrombosis (2 of 7 patients)

Clinical features from OMIM:

614613

Drugs & Therapeutics for Acrodysostosis 2 with or Without Hormone Resistance

Search Clinical Trials , NIH Clinical Center for Acrodysostosis 2 with or Without Hormone Resistance

Genetic Tests for Acrodysostosis 2 with or Without Hormone Resistance

Genetic tests related to Acrodysostosis 2 with or Without Hormone Resistance:

# Genetic test Affiliating Genes
1 Acrodysostosis 2, with or Without Hormone Resistance 29 PDE4D

Anatomical Context for Acrodysostosis 2 with or Without Hormone Resistance

MalaCards organs/tissues related to Acrodysostosis 2 with or Without Hormone Resistance:

40
Eye, Bone

Publications for Acrodysostosis 2 with or Without Hormone Resistance

Articles related to Acrodysostosis 2 with or Without Hormone Resistance:

# Title Authors PMID Year
1
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. 56 6
24203977 2014
2
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. 6 56
23033274 2013
3
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. 56 6
22464250 2012
4
Exome sequencing identifies PDE4D mutations in acrodysostosis. 56 6
22464252 2012
5
Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. 6 56
11200992 2001
6
Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3. 61
29016851 2017

Variations for Acrodysostosis 2 with or Without Hormone Resistance

ClinVar genetic disease variations for Acrodysostosis 2 with or Without Hormone Resistance:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDE4D NM_001104631.2(PDE4D):c.673C>A (p.Pro225Thr)SNV Pathogenic 30035 rs397514464 5:58489337-58489337 5:59193511-59193511
2 PDE4D NM_001104631.2(PDE4D):c.677T>C (p.Phe226Ser)SNV Pathogenic 30036 rs397514465 5:58489333-58489333 5:59193507-59193507
3 PDE4D NM_001104631.2(PDE4D):c.568T>G (p.Ser190Ala)SNV Pathogenic 30037 rs397514466 5:58511682-58511682 5:59215856-59215856
4 PDE4D NM_001104631.2(PDE4D):c.1759A>C (p.Thr587Pro)SNV Pathogenic 30038 rs397514467 5:58272248-58272248 5:58976421-58976421
5 PDE4D NM_001104631.2(PDE4D):c.682C>G (p.Gln228Glu)SNV Pathogenic 30039 rs397514468 5:58489328-58489328 5:59193502-59193502
6 PDE4D NM_001104631.2(PDE4D):c.1952A>C (p.Glu651Ala)SNV Pathogenic 30040 rs387906744 5:58271545-58271545 5:58975718-58975718
7 PDE4D NM_001104631.2(PDE4D):c.2018G>A (p.Gly673Asp)SNV Pathogenic 30041 rs397514469 5:58270903-58270903 5:58975076-58975076
8 PDE4D NM_001104631.2(PDE4D):c.911C>T (p.Ala304Val)SNV Pathogenic 40064 rs397515433 5:58334696-58334696 5:59038869-59038869
9 PDE4D NM_001104631.2(PDE4D):c.677T>G (p.Phe226Cys)SNV Pathogenic 101052 rs397514465 5:58489333-58489333 5:59193507-59193507
10 PDE4D NM_001104631.2(PDE4D):c.2033T>C (p.Ile678Thr)SNV Pathogenic 101053 rs587777188 5:58270888-58270888 5:58975061-58975061
11 PDE4D NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val)SNV Conflicting interpretations of pathogenicity 436281 rs1554033934 5:58272245-58272245 5:58976418-58976418
12 DEPDC1B , PART1 , PDE4D deletion Uncertain significance 560134 5:59768330-60020422 5:60472503-60724595
13 PDE4D NM_001104631.2(PDE4D):c.2179C>T (p.Arg727Trp)SNV Uncertain significance 587609 5:58270742-58270742 5:58974915-58974915

UniProtKB/Swiss-Prot genetic disease variations for Acrodysostosis 2 with or Without Hormone Resistance:

73 (show all 12)
# Symbol AA change Variation ID SNP ID
1 PDE4D p.Ser190Ala VAR_068242 rs397514466
2 PDE4D p.Pro225Thr VAR_068243 rs397514464
3 PDE4D p.Phe226Ser VAR_068244 rs397514465
4 PDE4D p.Thr587Pro VAR_068245 rs397514467
5 PDE4D p.Ala227Ser VAR_069448
6 PDE4D p.Gln228Glu VAR_069449 rs397514468
7 PDE4D p.Ser301Thr VAR_069450
8 PDE4D p.Ala304Val VAR_069451 rs397515433
9 PDE4D p.Val329Ala VAR_069452
10 PDE4D p.Glu590Ala VAR_069453
11 PDE4D p.Gly673Asp VAR_069454 rs397514469
12 PDE4D p.Ile678Thr VAR_069455 rs587777188

Expression for Acrodysostosis 2 with or Without Hormone Resistance

Search GEO for disease gene expression data for Acrodysostosis 2 with or Without Hormone Resistance.

Pathways for Acrodysostosis 2 with or Without Hormone Resistance

GO Terms for Acrodysostosis 2 with or Without Hormone Resistance

Sources for Acrodysostosis 2 with or Without Hormone Resistance

3 CDC
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10 dbSNP
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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