MCID: ANX008
MIFTS: 18

Anauxetic Dysplasia 2

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

Aliases & Classifications for Anauxetic Dysplasia 2

MalaCards integrated aliases for Anauxetic Dysplasia 2:

Name: Anauxetic Dysplasia 2 57 75 6
Anxd2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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)

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 macroglossia and short neck

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Anauxetic Dysplasia 2

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Anauxetic Dysplasia 2:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 macroglossia 32 occasional (7.5%) HP:0000158
2 short neck 32 occasional (7.5%) HP:0000470
3 hypodontia 32 occasional (7.5%) HP:0000668
4 brachydactyly 32 HP:0001156
5 small nail 32 occasional (7.5%) HP:0001792
6 nail dysplasia 32 occasional (7.5%) HP:0002164
7 coxa valga 32 occasional (7.5%) HP:0002673
8 delayed skeletal maturation 32 HP:0002750
9 coxa vara 32 HP:0002812
10 cubitus valgus 32 HP:0002967
11 ovoid vertebral bodies 32 HP:0003300
12 thoracolumbar kyphoscoliosis 32 HP:0003423
13 relative macrocephaly 32 occasional (7.5%) HP:0004482
14 sparse hair 32 occasional (7.5%) HP:0008070
15 hypoplasia of the femoral head 32 HP:0008802
16 hypoplastic iliac body 32 HP:0008824
17 cervical spine instability 32 occasional (7.5%) HP:0010646
18 midface retrusion 32 HP:0011800
19 short femoral neck 32 HP:0100864

Drugs & Therapeutics for Anauxetic Dysplasia 2

Search Clinical Trials , NIH Clinical Center for Anauxetic Dysplasia 2

Genetic Tests for Anauxetic Dysplasia 2

Anatomical Context for Anauxetic Dysplasia 2

MalaCards organs/tissues related to Anauxetic Dysplasia 2:

41
Bone

Publications for Anauxetic Dysplasia 2

Variations for Anauxetic Dysplasia 2

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

75
# Symbol AA change Variation ID SNP ID
1 POP1 p.Gly583Glu VAR_067755 rs374828868
2 POP1 p.Asp511Tyr VAR_078770
3 POP1 p.Pro582Ser VAR_078771

ClinVar genetic disease variations for Anauxetic Dysplasia 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POP1 NM_001145860.1(POP1): c.1748G> A (p.Gly583Glu) single nucleotide variant Pathogenic rs374828868 GRCh38 Chromosome 8, 98148852: 98148852
2 POP1 NM_001145860.1(POP1): c.1573C> T (p.Pro525Ser) single nucleotide variant Pathogenic rs769183311 GRCh37 Chromosome 8, 99153095: 99153095
3 POP1 NM_001145860.1(POP1): c.1573C> T (p.Pro525Ser) single nucleotide variant Pathogenic rs769183311 GRCh38 Chromosome 8, 98140867: 98140867
4 POP1 NM_001145860.1(POP1): c.1748G> A (p.Gly583Glu) single nucleotide variant Pathogenic rs374828868 GRCh37 Chromosome 8, 99161080: 99161080
5 POP1 NM_001145860.1(POP1): c.1744C> T (p.Pro582Ser) single nucleotide variant Pathogenic rs1060505023 GRCh38 Chromosome 8, 98148848: 98148848
6 POP1 NM_001145860.1(POP1): c.1744C> T (p.Pro582Ser) single nucleotide variant Pathogenic rs1060505023 GRCh37 Chromosome 8, 99161076: 99161076
7 POP1 NM_001145860.1(POP1): c.2607delC (p.Glu870Serfs) deletion Pathogenic rs1060505024 GRCh38 Chromosome 8, 98157803: 98157803
8 POP1 NM_001145860.1(POP1): c.2607delC (p.Glu870Serfs) deletion Pathogenic rs1060505024 GRCh37 Chromosome 8, 99170031: 99170031
9 POP1 NM_001145860.1(POP1): c.1531G> T (p.Asp511Tyr) single nucleotide variant Pathogenic rs1060505025 GRCh38 Chromosome 8, 98140825: 98140825
10 POP1 NM_001145860.1(POP1): c.1531G> T (p.Asp511Tyr) single nucleotide variant Pathogenic rs1060505025 GRCh37 Chromosome 8, 99153053: 99153053

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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