MCID: KLL015
MIFTS: 13

Kallmann Syndrome with Spastic Paraplegia

Categories: Bone diseases

Aliases & Classifications for Kallmann Syndrome with Spastic Paraplegia

MalaCards integrated aliases for Kallmann Syndrome with Spastic Paraplegia:

Name: Kallmann Syndrome with Spastic Paraplegia 56 74
Spastic Paraplegia with Kallmann Syndrome 71
Spastic Paraplegia-Kallmann Syndrome 56

Characteristics:

OMIM:

56
Inheritance:
x-linked (xp22.3)


HPO:

31
kallmann syndrome with spastic paraplegia:
Inheritance x-linked inheritance


Classifications:



Summaries for Kallmann Syndrome with Spastic Paraplegia

MalaCards based summary : Kallmann Syndrome with Spastic Paraplegia, is also known as spastic paraplegia with kallmann syndrome. Affiliated tissues include bone, and related phenotypes are ataxia and high palate

Wikipedia : 74 Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing... more...

More information from OMIM: 308750

Related Diseases for Kallmann Syndrome with Spastic Paraplegia

Symptoms & Phenotypes for Kallmann Syndrome with Spastic Paraplegia

Human phenotypes related to Kallmann Syndrome with Spastic Paraplegia:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 high palate 31 HP:0000218
3 cryptorchidism 31 HP:0000028
4 pes cavus 31 HP:0001761
5 hypogonadotrophic hypogonadism 31 HP:0000044
6 testicular atrophy 31 HP:0000029
7 micropenis 31 HP:0000054
8 anosmia 31 HP:0000458
9 gynecomastia 31 HP:0000771
10 spastic paraplegia 31 HP:0001258
11 unilateral renal agenesis 31 HP:0000122
12 olfactory lobe agenesis 31 HP:0001341
13 sparse pubic hair 31 HP:0002225
14 decreased circulating follicle stimulating hormone level 31 HP:0030341
15 decreased circulating luteinizing hormone level 31 HP:0030344
16 eunuchoid habitus 31 HP:0003782
17 bimanual synkinesia 31 HP:0001335
18 leydig cell insensitivity to gonadotropin 31 HP:0002929
19 hypothalamic gonadotropin-releasing hormone deficiency 31 HP:0003164

Symptoms via clinical synopsis from OMIM:

56
Neuro:
ataxia
spastic paraplegia
olfactory lobe agenesis
mirror hand movements (bimanual synkinesia)

Limbs:
pes cavus

Thorax:
gynecomastia

Lab:
hypothalamic gonadotropin-releasing hormone (gnrh) deficiency
leydig cell insensitivity to gonadotropin
impaired fsh and lh secretion

Endocrine:
hypogonadotropic hypogonadism

Misc:
partial or complete anosmia in some heterozygous females

G U:
cryptorchidism
testicular atrophy
micropenis
unilateral renal agenesis

Nose:
anosmia

Skel:
eunuchoid habitus

Mouth:
high-arched palate

Hair:
decreased sexual hair

Clinical features from OMIM:

308750

Drugs & Therapeutics for Kallmann Syndrome with Spastic Paraplegia

Search Clinical Trials , NIH Clinical Center for Kallmann Syndrome with Spastic Paraplegia

Genetic Tests for Kallmann Syndrome with Spastic Paraplegia

Anatomical Context for Kallmann Syndrome with Spastic Paraplegia

MalaCards organs/tissues related to Kallmann Syndrome with Spastic Paraplegia:

40
Bone

Publications for Kallmann Syndrome with Spastic Paraplegia

Articles related to Kallmann Syndrome with Spastic Paraplegia:

# Title Authors PMID Year
1
Familial spastic paraplegia with Kallmann's syndrome. 56
6604133 1983

Variations for Kallmann Syndrome with Spastic Paraplegia

Expression for Kallmann Syndrome with Spastic Paraplegia

Search GEO for disease gene expression data for Kallmann Syndrome with Spastic Paraplegia.

Pathways for Kallmann Syndrome with Spastic Paraplegia

GO Terms for Kallmann Syndrome with Spastic Paraplegia

Sources for Kallmann Syndrome with Spastic Paraplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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