ANXD2
MCID: ANX008
MIFTS: 24

Anauxetic Dysplasia 2 (ANXD2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Anauxetic Dysplasia 2

MalaCards integrated aliases for Anauxetic Dysplasia 2:

Name: Anauxetic Dysplasia 2 57 72 29 6
Anxd2 57 72

Characteristics:

OMIM®:

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


HPO:

31
anauxetic dysplasia 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Anauxetic Dysplasia 2

OMIM® : 57 Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017). For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (607095). (617396) (Updated 20-May-2021)

MalaCards based summary : Anauxetic Dysplasia 2, is also known as anxd2. An important gene associated with Anauxetic Dysplasia 2 is POP1 (POP1 Homolog, Ribonuclease P/MRP Subunit). Affiliated tissues include bone, and related phenotypes are short neck and macroglossia

UniProtKB/Swiss-Prot : 72 Anauxetic dysplasia 2: An autosomal recessive spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability.

Related Diseases for Anauxetic Dysplasia 2

Diseases in the Anauxetic Dysplasia 1 family:

Anauxetic Dysplasia 2 Anauxetic Dysplasia 3

Symptoms & Phenotypes for Anauxetic Dysplasia 2

Human phenotypes related to Anauxetic Dysplasia 2:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 short neck 31 occasional (7.5%) HP:0000470
2 macroglossia 31 occasional (7.5%) HP:0000158
3 hypodontia 31 occasional (7.5%) HP:0000668
4 coxa valga 31 occasional (7.5%) HP:0002673
5 nail dysplasia 31 occasional (7.5%) HP:0002164
6 sparse hair 31 occasional (7.5%) HP:0008070
7 relative macrocephaly 31 occasional (7.5%) HP:0004482
8 small nail 31 occasional (7.5%) HP:0001792
9 cervical spine instability 31 occasional (7.5%) HP:0010646
10 hyperlordosis 31 HP:0003307
11 delayed skeletal maturation 31 HP:0002750
12 short stature 31 HP:0004322
13 flexion contracture 31 HP:0001371
14 ovoid vertebral bodies 31 HP:0003300
15 cubitus valgus 31 HP:0002967
16 shield chest 31 HP:0000914
17 brachydactyly 31 HP:0001156
18 coxa vara 31 HP:0002812
19 midface retrusion 31 HP:0011800
20 metaphyseal dysplasia 31 HP:0100255
21 short femoral neck 31 HP:0100864
22 thoracolumbar kyphoscoliosis 31 HP:0003423
23 hypoplastic iliac body 31 HP:0008824
24 hypoplasia of the femoral head 31 HP:0008802

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
ovoid vertebral bodies
thoracolumbar kyphoscoliosis
cervical spine instability (in some patients)
lumbosacral hyperlordosis
dorsal wedging of vertebrae
more
Skeletal Hands:
brachydactyly
metaphyseal irregularities of tubular bones
short broad bullet-shaped proximal and middle phalanges
cone-shaped epiphyses of proximal and middle phalanges
short and wide first and fifth metacarpals
more
Head And Neck Face:
midface hypoplasia

Chest External Features:
broad chest
prominent thorax

Skin Nails Hair Hair:
sparse hair (rare)
hypopigmented hair (rare)

Growth Height:
extreme short stature

Head And Neck Mouth:
macroglossia (rare)

Skeletal Feet:
prominent heels (in some patients)

Neurologic Central Nervous System:
mild intellectual disability (in some patients)

Skeletal Limbs:
cubitus valgus
bowing of ulna
hypoplastic femoral head
bowing of femur
hypoplastic femoral neck
more
Skeletal Pelvis:
coxa vara
coxa valga (in some patients)
hypoplastic iliac bodies
slanting or flaring acetabulae

Skeletal:
delayed bone age

Head And Neck Teeth:
hypodontia (rare)

Head And Neck Head:
relative macrocephaly (in some patients)

Growth Other:
growth retardation, prenatal onset

Head And Neck Neck:
short neck (rare)

Skin Nails Hair Nails:
small nails (rare)
dysplastic nails (rare)

Clinical features from OMIM®:

617396 (Updated 20-May-2021)

Drugs & Therapeutics for Anauxetic Dysplasia 2

Search Clinical Trials , NIH Clinical Center for Anauxetic Dysplasia 2

Genetic Tests for Anauxetic Dysplasia 2

Genetic tests related to Anauxetic Dysplasia 2:

# Genetic test Affiliating Genes
1 Anauxetic Dysplasia 2 29 POP1

Anatomical Context for Anauxetic Dysplasia 2

MalaCards organs/tissues related to Anauxetic Dysplasia 2:

40
Bone

Publications for Anauxetic Dysplasia 2

Articles related to Anauxetic Dysplasia 2:

# Title Authors PMID Year
1
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. 57 6
28067412 2017
2
Further evidence of POP1 mutations as the cause of anauxetic dysplasia. 6 57
27380734 2016
3
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. 57 6
21455487 2011
4
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. 61
31250547 2019

Variations for Anauxetic Dysplasia 2

ClinVar genetic disease variations for Anauxetic Dysplasia 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POP1 NM_001145860.2(POP1):c.1573C>T (p.Pro525Ser) SNV Pathogenic 393588 rs769183311 GRCh37: 8:99153095-99153095
GRCh38: 8:98140867-98140867
2 POP1 NM_001145860.2(POP1):c.1748G>A (p.Gly583Glu) SNV Pathogenic 393589 rs374828868 GRCh37: 8:99161080-99161080
GRCh38: 8:98148852-98148852
3 POP1 NM_001145860.2(POP1):c.1531G>T (p.Asp511Tyr) SNV Pathogenic 417738 rs1060505025 GRCh37: 8:99153053-99153053
GRCh38: 8:98140825-98140825
4 POP1 NM_001145860.2(POP1):c.1744C>T (p.Pro582Ser) SNV Pathogenic 417736 rs1060505023 GRCh37: 8:99161076-99161076
GRCh38: 8:98148848-98148848
5 POP1 NM_001145860.2(POP1):c.2607del (p.Glu870fs) Deletion Pathogenic 417737 rs1060505024 GRCh37: 8:99170028-99170028
GRCh38: 8:98157800-98157800
6 POP1 NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) SNV Pathogenic 1029341 GRCh37: 8:99153059-99153059
GRCh38: 8:98140831-98140831

UniProtKB/Swiss-Prot genetic disease variations for Anauxetic Dysplasia 2:

72
# Symbol AA change Variation ID SNP ID
1 POP1 p.Gly583Glu VAR_067755 rs374828868
2 POP1 p.Asp511Tyr VAR_078770 rs106050502
3 POP1 p.Pro582Ser VAR_078771 rs106050502

Expression for Anauxetic Dysplasia 2

Search GEO for disease gene expression data for Anauxetic Dysplasia 2.

Pathways for Anauxetic Dysplasia 2

GO Terms for Anauxetic Dysplasia 2

Sources for Anauxetic Dysplasia 2

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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