SHLTS
MCID: SCH031
MIFTS: 22

Scholte Syndrome (SHLTS)

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Scholte Syndrome

MalaCards integrated aliases for Scholte Syndrome:

Name: Scholte Syndrome 57 53 29 72
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome 59
Early Balding, Patella Luxation, Acromicria, and Hypogonadism 57
Early Balding, Patella Luxation, Acromicria and Hypogonadism 53
Scholte-Begeer-Van Essen Syndrome 59
Shlts 57

Characteristics:

Orphanet epidemiological data:

59
intellectual disability-balding-patella luxation-acromicria syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
five patients have been reported (last curated september 2016)


HPO:

32
scholte syndrome:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300977
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1866985
Orphanet 59 ORPHA3041
MedGen 42 C1866985
UMLS 72 C1866985

Summaries for Scholte Syndrome

MalaCards based summary : Scholte Syndrome, also known as intellectual disability-balding-patella luxation-acromicria syndrome, is related to hypogonadism and hypogonadotropism, and has symptoms including abnormal pyramidal signs Affiliated tissues include eye, testes and bone, and related phenotypes are abnormal facial shape and intellectual disability, severe

More information from OMIM: 300977

Related Diseases for Scholte Syndrome

Diseases related to Scholte Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypogonadism 10.5
2 hypogonadotropism 10.5

Symptoms & Phenotypes for Scholte Syndrome

Human phenotypes related to Scholte Syndrome:

59 32 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
2 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
3 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
4 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
5 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
6 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
7 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
8 acromesomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003086
9 early balding 59 32 hallmark (90%) Very frequent (99-80%) HP:0002234
10 frontal balding 59 32 hallmark (90%) Very frequent (99-80%) HP:0002292
11 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
12 decreased muscle mass 59 32 frequent (33%) Frequent (79-30%) HP:0003199
13 kyphoscoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002751
14 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
15 decreased testicular size 59 32 frequent (33%) Frequent (79-30%) HP:0008734
16 blue irides 59 32 frequent (33%) Frequent (79-30%) HP:0000635
17 micropenis 59 32 frequent (33%) Frequent (79-30%) HP:0000054
18 bulbous nose 59 32 frequent (33%) Frequent (79-30%) HP:0000414
19 thin upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000219
20 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
21 infantile muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0008947
22 patellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0003065
23 reduced subcutaneous adipose tissue 59 32 frequent (33%) Frequent (79-30%) HP:0003758
24 patellar subluxation 59 32 frequent (33%) Frequent (79-30%) HP:0010499
25 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
26 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
27 prominent forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0011220
28 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
29 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
30 protruding ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000411
31 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
32 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
33 metatarsus adductus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001840
34 short toe 59 32 occasional (7.5%) Occasional (29-5%) HP:0001831
35 dysmetria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001310
36 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
37 abnormality of the antihelix 59 32 occasional (7.5%) Occasional (29-5%) HP:0009738
38 flat occiput 59 32 occasional (7.5%) Occasional (29-5%) HP:0005469
39 midface retrusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0011800
40 thoracic kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002942
41 truncal obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001956
42 cafe-au-lait spot 59 32 occasional (7.5%) Occasional (29-5%) HP:0000957
43 2-3 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0004691
44 lumbar hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002938
45 spastic paraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002313
46 thoracolumbar scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002944
47 self-mutilation 59 32 occasional (7.5%) Occasional (29-5%) HP:0000742
48 hand tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002378
49 4-5 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0004692
50 lumbar kyphosis in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008414

Symptoms via clinical synopsis from OMIM:

57
Skeletal Skull:
dolichocephaly

Neurologic Central Nervous System:
generalized hypotonia
pyramidal signs
severe mental retardation, severe to profound
childhood epilepsy
large lateral ventricles
more
Head And Neck Face:
high forehead

Skeletal Hands:
acromicria
small hands

Genitourinary External Genitalia Male:
small penis

Genitourinary Internal Genitalia Male:
small testes

Skeletal Feet:
small feet

Skin Nails Hair Hair:
premature balding

Head And Neck Nose:
broad nasal tip
bifid nasal tip

Skeletal Spine:
kyphoscoliosis

Muscle Soft Tissue:
decreased subcutaneous fat
hypotrophic muscles

Head And Neck Eyes:
epicanthal folds
upward slanting palpebral fissures
deeply set eyes

Head And Neck Mouth:
everted lower lip
thin vermillion of upper lip

Skeletal Limbs:
hypoplastic patellae
subluxation of patellae

Head And Neck Head:
premature balding

Neurologic Behavioral Psychiatric Manifestations:
autistic spectrum disorder (in some patients)

Clinical features from OMIM:

300977

UMLS symptoms related to Scholte Syndrome:


abnormal pyramidal signs

Drugs & Therapeutics for Scholte Syndrome

Search Clinical Trials , NIH Clinical Center for Scholte Syndrome

Genetic Tests for Scholte Syndrome

Genetic tests related to Scholte Syndrome:

# Genetic test Affiliating Genes
1 Scholte Syndrome 29

Anatomical Context for Scholte Syndrome

MalaCards organs/tissues related to Scholte Syndrome:

41
Eye, Testes, Bone

Publications for Scholte Syndrome

Articles related to Scholte Syndrome:

# Title Authors PMID Year
1
Mental retardation, premature balding, small genitalia, small acra and small patellae in brothers: confirmation of an entity. 8
20624501 2010
2
Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients. 8
8487281 1993
3
Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and hypogonadism. 8
2002488 1991

Variations for Scholte Syndrome

Expression for Scholte Syndrome

Search GEO for disease gene expression data for Scholte Syndrome.

Pathways for Scholte Syndrome

GO Terms for Scholte Syndrome

Sources for Scholte Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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