MCID: ABS020
MIFTS: 19

Absent Eyebrows and Eyelashes with Mental Retardation

Categories: Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare 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 57 70
Pseudoprogeria Syndrome 57 20 58 29
Absent Eyebrows and Eyelashes-Intellectual Disability Syndrome 58
Hal-Berg-Rudolph Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
pseudoprogeria syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Absent Eyebrows and Eyelashes with Mental Retardation

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2985 Definition Pseudoprogeria 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.

MalaCards based summary : Absent Eyebrows and Eyelashes with Mental Retardation, is also known as pseudoprogeria syndrome. Affiliated tissues include eye, and related phenotypes are intellectual disability and absent eyelashes

More information from OMIM: 200130

Related Diseases for Absent Eyebrows and Eyelashes with Mental Retardation

Symptoms & Phenotypes for Absent Eyebrows and Eyelashes with Mental Retardation

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

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 obligate (100%) Obligate (100%) HP:0001249
2 absent eyelashes 58 31 very rare (1%) Obligate (100%) HP:0000561
3 absent eyebrow 58 31 very rare (1%) Obligate (100%) HP:0002223
4 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
5 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
6 microcephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000252
7 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
9 glaucoma 58 31 very rare (1%) Very frequent (99-80%) HP:0000501
10 convex nasal ridge 58 31 very rare (1%) Very frequent (99-80%) HP:0000444
11 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
12 progressive spastic quadriplegia 58 31 very rare (1%) Very frequent (99-80%) HP:0002478
13 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
14 bird-like facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0000320
15 spinalarachnoid cyst 58 31 hallmark (90%) Very frequent (99-80%) HP:0009745
16 cranium bifidum occultum 58 31 hallmark (90%) Very frequent (99-80%) HP:0004423
17 narrow nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0011832
18 sparse and thin eyebrow 31 hallmark (90%) HP:0000535
19 short nose 31 very rare (1%) HP:0003196
20 encephalocele 31 very rare (1%) HP:0002084
21 growth delay 58 Very frequent (99-80%)
22 hypotrichosis 58 Very frequent (99-80%)
23 decreased body weight 58 Very frequent (99-80%)
24 sparse eyebrow 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29

Anatomical Context for Absent Eyebrows and Eyelashes with Mental Retardation

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

40
Eye

Publications for Absent Eyebrows and Eyelashes with Mental Retardation

Articles related to Absent Eyebrows and Eyelashes with Mental Retardation:

# Title Authors PMID Year
1
Pseudoprogeria-Hallermann-Streiff (PHS) syndrome. 57
4418946 1974

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
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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