MCID: ABS020
MIFTS: 20

Absent Eyebrows and Eyelashes with Mental Retardation

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Absent Eyebrows and Eyelashes with Mental Retardation

MalaCards integrated aliases for Absent Eyebrows and Eyelashes with Mental Retardation:

Name: Absent Eyebrows and Eyelashes with Mental Retardation 53 49 69
Pseudoprogeria Syndrome 53 49 55 28
Mental Retardation, Absence of Eyebrows and Eyelashes, Progressive Spastic Quadriplegia, Microcephaly, Glaucoma, and Small, Beaked Nose 49
Absent Eyebrows and Eyelashes-Intellectual Disability Syndrome 55
Hal-Berg-Rudolph Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
pseudoprogeria syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
absent eyebrows and eyelashes with mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Absent Eyebrows and Eyelashes with Mental Retardation

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2985Disease definitionPseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.Visit the Orphanet disease page for more resources. Last updated: 7/20/2006

MalaCards based summary : Absent Eyebrows and Eyelashes with Mental Retardation, is also known as pseudoprogeria syndrome, and has symptoms including joint stiffness, intellectual disability and failure to thrive. Affiliated tissues include skin.

Description from OMIM: 200130

Related Diseases for Absent Eyebrows and Eyelashes with Mental Retardation

Symptoms & Phenotypes for Absent Eyebrows and Eyelashes with Mental Retardation

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
microcephaly

Head And Neck Eyes:
glaucoma
eyebrows absent

Skin Nails Hair Hair:
eyebrows absent
eyelashes absent

Skeletal Skull:
microcephaly
cranium bifidum

Head And Neck Nose:
beaked nose
small nose

Skeletal Spine:
spinal cyst


Clinical features from OMIM:

200130

Human phenotypes related to Absent Eyebrows and Eyelashes with Mental Retardation:

55 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 intellectual disability 55 31 obligate (100%) Obligate (100%) HP:0001249
3 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
4 microcephaly 55 31 very rare (1%) Very frequent (99-80%) HP:0000252
5 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 thin skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000963
7 alopecia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001596
8 glaucoma 55 31 very rare (1%) Very frequent (99-80%) HP:0000501
9 hypotrichosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001006
10 convex nasal ridge 55 31 very rare (1%) Very frequent (99-80%) HP:0000444
11 sparse hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0008070
12 absent eyelashes 55 31 very rare (1%) Obligate (100%) HP:0000561
13 bird-like facies 55 31 hallmark (90%) Very frequent (99-80%) HP:0000320
14 progressive spastic quadriplegia 55 31 very rare (1%) Very frequent (99-80%) HP:0002478
15 absent eyebrow 55 31 very rare (1%) Obligate (100%) HP:0002223
16 cranium bifidum occultum 55 31 hallmark (90%) Very frequent (99-80%) HP:0004423
17 spinalarachnoid cyst 55 31 hallmark (90%) Very frequent (99-80%) HP:0009745
18 narrow nasal tip 55 31 hallmark (90%) Very frequent (99-80%) HP:0011832
19 short nose 31 very rare (1%) HP:0003196
20 growth delay 55 Very frequent (99-80%)
21 decreased body weight 55 Very frequent (99-80%)
22 encephalocele 31 very rare (1%) HP:0002084
23 sparse eyebrow 55 Very frequent (99-80%)
24 sparse and thin eyebrow 31 hallmark (90%) HP:0000535

Drugs & Therapeutics for Absent Eyebrows and Eyelashes with Mental Retardation

Search Clinical Trials , NIH Clinical Center for Absent Eyebrows and Eyelashes with Mental Retardation

Genetic Tests for Absent Eyebrows and Eyelashes with Mental Retardation

Genetic tests related to Absent Eyebrows and Eyelashes with Mental Retardation:

# Genetic test Affiliating Genes
1 Pseudoprogeria Syndrome 28

Anatomical Context for Absent Eyebrows and Eyelashes with Mental Retardation

MalaCards organs/tissues related to Absent Eyebrows and Eyelashes with Mental Retardation:

38
Skin

Publications for Absent Eyebrows and Eyelashes with Mental Retardation

Variations for Absent Eyebrows and Eyelashes with Mental Retardation

Expression for Absent Eyebrows and Eyelashes with Mental Retardation

Search GEO for disease gene expression data for Absent Eyebrows and Eyelashes with Mental Retardation.

Pathways for Absent Eyebrows and Eyelashes with Mental Retardation

GO Terms for Absent Eyebrows and Eyelashes with Mental Retardation

Sources for Absent Eyebrows and Eyelashes with Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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