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 54 50 69
Pseudoprogeria Syndrome 50 56 29
Mental Retardation, Absence of Eyebrows and Eyelashes, Progressive Spastic Quadriplegia, Microcephaly, Glaucoma, and Small, Beaked Nose 50
Eyebrows and Eyelashes Absence-Intellectual Disability Syndrome 56
Hal-Berg-Rudolph Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
pseudoprogeria syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
absent eyebrows and eyelashes with mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Absent Eyebrows and Eyelashes with Mental Retardation

NIH Rare Diseases : 50 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 short stature, failure to thrive and microcephaly. 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:

54

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:
small nose
beaked nose

Skeletal- Spine:
spinal cyst


Clinical features from OMIM:

200130

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

56 32 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 microcephaly 56 32 very rare (1%) Very frequent (99-80%) HP:0000252
4 alopecia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001596
5 bird-like facies 56 32 hallmark (90%) Very frequent (99-80%) HP:0000320
6 sparse hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0008070
7 glaucoma 56 32 very rare (1%) Very frequent (99-80%) HP:0000501
8 thin skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000963
9 intellectual disability 56 32 obligate (100%) Obligate (100%) HP:0001249
10 cranium bifidum occultum 56 32 hallmark (90%) Very frequent (99-80%) HP:0004423
11 absent eyelashes 56 32 very rare (1%) Obligate (100%) HP:0000561
12 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
13 hypotrichosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001006
14 progressive spastic quadriplegia 56 32 very rare (1%) Very frequent (99-80%) HP:0002478
15 convex nasal ridge 56 32 very rare (1%) Very frequent (99-80%) HP:0000444
16 absent eyebrow 56 32 very rare (1%) Obligate (100%) HP:0002223
17 spinalarachnoid cyst 56 32 hallmark (90%) Very frequent (99-80%) HP:0009745
18 narrow nasal tip 56 32 hallmark (90%) Very frequent (99-80%) HP:0011832
19 short nose 32 very rare (1%) HP:0003196
20 encephalocele 32 very rare (1%) HP:0002084
21 growth delay 56 Very frequent (99-80%)
22 decreased body weight 56 Very frequent (99-80%)
23 sparse eyebrow 56 Very frequent (99-80%)
24 sparse and thin eyebrow 32 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:

id 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:

39
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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