ANXD3
MCID: ANX011
MIFTS: 18

Anauxetic Dysplasia 3 (ANXD3)

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

Aliases & Classifications for Anauxetic Dysplasia 3

MalaCards integrated aliases for Anauxetic Dysplasia 3:

Name: Anauxetic Dysplasia 3 56 6
Anxd3 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 56 618853
OMIM Phenotypic Series 56 PS607095

Summaries for Anauxetic Dysplasia 3

OMIM : 56 Anauxetic dysplasia-3 (ANXD3) is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. Radiographs show short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays (Narayanan et al., 2019). For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (607095). (618853)

MalaCards based summary : Anauxetic Dysplasia 3, is also known as anxd3. An important gene associated with Anauxetic Dysplasia 3 is NEPRO (Nucleolus And Neural Progenitor Protein). Affiliated tissues include skin, bone and spinal cord.

Related Diseases for Anauxetic Dysplasia 3

Diseases in the Anauxetic Dysplasia 1 family:

Anauxetic Dysplasia 2 Anauxetic Dysplasia 3

Symptoms & Phenotypes for Anauxetic Dysplasia 3

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly
sparse scalp hair
wide anterior fontanel

Skeletal Spine:
ovoid vertebral bodies
platyspondyly
thoracolumbar kyphoscoliosis

Neurologic Central Nervous System:
motor delay
hypotonia
cognitive delay
spinal cord compression (rare)

Skeletal Hands:
brachydactyly
trident hand
short metacarpals
short broad middle phalanges

Head And Neck Face:
high anterior hairline
midface hypoplasia

Growth Weight:
low birth weight

Skin Nails Hair Skin:
skin laxity

Skeletal Limbs:
bowing of femur
irregular cupped metaphyses of long bones

Skeletal Pelvis:
squaring of ilia
narrow acetabular angle

Abdomen Gastrointestinal:
gastroesophageal reflux
poor feeding

Chest External Features:
pectus excavatum
narrow thorax

Skeletal:
joint hypermobility
joint dislocations
generalized osteopenia

Skin Nails Hair Hair:
sparse scalp hair
broad eyebrows

Growth Height:
short stature, severe

Skeletal Feet:
short toes

Head And Neck Eyes:
broad eyebrows

Respiratory Lung:
frequent lung infections (in some patients)

Clinical features from OMIM:

618853

Drugs & Therapeutics for Anauxetic Dysplasia 3

Search Clinical Trials , NIH Clinical Center for Anauxetic Dysplasia 3

Genetic Tests for Anauxetic Dysplasia 3

Anatomical Context for Anauxetic Dysplasia 3

MalaCards organs/tissues related to Anauxetic Dysplasia 3:

40
Skin, Bone, Spinal Cord, Lung

Publications for Anauxetic Dysplasia 3

Articles related to Anauxetic Dysplasia 3:

# Title Authors PMID Year
1
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. 56 6
31250547 2019
2
Expanding the phenome and variome of skeletal dysplasia. 6 56
29620724 2018
3
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort. 56 6
26633546 2016

Variations for Anauxetic Dysplasia 3

ClinVar genetic disease variations for Anauxetic Dysplasia 3:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NEPRO NM_015412.4(NEPRO):c.280C>T (p.Arg94Cys)SNV Pathogenic 869496 3:112732861-112732861 3:113014014-113014014
2 NEPRO NM_015412.4(NEPRO):c.435G>C (p.Leu145Phe)SNV Pathogenic 869497 3:112732157-112732157 3:113013310-113013310

Expression for Anauxetic Dysplasia 3

Search GEO for disease gene expression data for Anauxetic Dysplasia 3.

Pathways for Anauxetic Dysplasia 3

GO Terms for Anauxetic Dysplasia 3

Sources for Anauxetic Dysplasia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....