SHLTS
MCID: SCH031
MIFTS: 23

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 58 54 30 74
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome 60
Early Balding, Patella Luxation, Acromicria, and Hypogonadism 58
Early Balding, Patella Luxation, Acromicria and Hypogonadism 54
Scholte-Begeer-Van Essen Syndrome 60
Shlts 58

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
x-linked recessive

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


HPO:

33
scholte syndrome:
Inheritance x-linked recessive inheritance


Classifications:



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, bone and testes, and related phenotypes are abnormal facial shape and intellectual disability, severe

Description 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:

60 33 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal facial shape 60 33 hallmark (90%) Very frequent (99-80%) HP:0001999
2 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
3 everted lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000232
4 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490
5 upslanted palpebral fissure 60 33 hallmark (90%) Very frequent (99-80%) HP:0000582
6 broad nasal tip 60 33 hallmark (90%) Very frequent (99-80%) HP:0000455
7 high forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000348
8 acromesomelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003086
9 early balding 60 33 hallmark (90%) Very frequent (99-80%) HP:0002234
10 frontal balding 60 33 hallmark (90%) Very frequent (99-80%) HP:0002292
11 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
12 decreased muscle mass 60 33 frequent (33%) Frequent (79-30%) HP:0003199
13 kyphoscoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002751
14 hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000135
15 decreased testicular size 60 33 frequent (33%) Frequent (79-30%) HP:0008734
16 blue irides 60 33 frequent (33%) Frequent (79-30%) HP:0000635
17 bulbous nose 60 33 frequent (33%) Frequent (79-30%) HP:0000414
18 thin upper lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000219
19 micropenis 60 33 frequent (33%) Frequent (79-30%) HP:0000054
20 unsteady gait 60 33 frequent (33%) Frequent (79-30%) HP:0002317
21 patellar hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0003065
22 infantile muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0008947
23 reduced subcutaneous adipose tissue 60 33 frequent (33%) Frequent (79-30%) HP:0003758
24 patellar subluxation 60 33 frequent (33%) Frequent (79-30%) HP:0010499
25 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
26 recurrent respiratory infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0002205
27 prominent forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0011220
28 feeding difficulties 60 33 occasional (7.5%) Occasional (29-5%) HP:0011968
29 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
30 dolichocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000268
31 metatarsus adductus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001840
32 short toe 60 33 occasional (7.5%) Occasional (29-5%) HP:0001831
33 dysmetria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001310
34 pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001761
35 protruding ear 60 33 occasional (7.5%) Occasional (29-5%) HP:0000411
36 short philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000322
37 abnormality of the antihelix 60 33 occasional (7.5%) Occasional (29-5%) HP:0009738
38 flat occiput 60 33 occasional (7.5%) Occasional (29-5%) HP:0005469
39 midface retrusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0011800
40 thoracic kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002942
41 truncal obesity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001956
42 cafe-au-lait spot 60 33 occasional (7.5%) Occasional (29-5%) HP:0000957
43 2-3 toe syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0004691
44 lumbar hyperlordosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002938
45 spastic paraparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002313
46 thoracolumbar scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002944
47 self-mutilation 60 33 occasional (7.5%) Occasional (29-5%) HP:0000742
48 hand tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0002378
49 4-5 toe syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0004692
50 lumbar kyphosis in infancy 60 33 occasional (7.5%) Occasional (29-5%) HP:0008414

Symptoms via clinical synopsis from OMIM:

58
Skeletal Skull:
dolichocephaly

Head And Neck Nose:
broad nasal tip
bifid nasal tip

Neurologic Central Nervous System:
generalized hypotonia
pyramidal signs
severe mental retardation, severe to profound
childhood epilepsy
large lateral ventricles
more
Head And Neck Eyes:
epicanthal folds
upward slanting palpebral fissures
deeply set eyes

Genitourinary External Genitalia Male:
small penis

Genitourinary Internal Genitalia Male:
small testes

Skeletal Feet:
small feet

Skin Nails Hair Hair:
premature balding

Skeletal Spine:
kyphoscoliosis

Head And Neck Face:
high forehead

Muscle Soft Tissue:
decreased subcutaneous fat
hypotrophic muscles

Skeletal Hands:
small hands
acromicria

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 30

Anatomical Context for Scholte Syndrome

MalaCards organs/tissues related to Scholte Syndrome:

42
Eye, Bone, Testes

Publications for Scholte Syndrome

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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