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Gene: Aspm MGI:1334448

Gene Summary

Name:

abnormal spindle microtubule assembly

Synonyms:

D330028K02Rik, MCPH5, Calmbp1, Aspm, Sha1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating glycerol level	Aspm^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.11×10^-05
increased total body fat amount	Aspm^{tm1a(KOMP)Wtsi}	HOM	Early adult	7.78×10^-05
thrombocytopenia	Aspm^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.53×10^-06
increased circulating HDL cholesterol level	Aspm^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.16×10^-06
increased circulating cholesterol level	Aspm^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.03×10^-05
decreased lean body mass	Aspm^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.10×10^-05

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Legacy Phenotype Associated Images

Aspm^{tm1a(KOMP)Wtsi}
HOM, Female, WTSI

View all 105 images

Aspm^{tm1a(KOMP)Wtsi}
corpus callosum, decreased corpus callosum size, HOM, Male, WTSI

Aspm^{tm1a(KOMP)Wtsi}
WT, Male, WTSI

Aspm^{tm1a(KOMP)Wtsi}
corpus callosum, decreased corpus callosum size, HOM, Male, WTSI

Aspm^{tm1a(KOMP)Wtsi}
HOM, Male, WTSI

View all 15 images

Aspm^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Aspm mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Aspm (2 diseases)
Human diseases predicted to be associated with Aspm (784 diseases)

The table below shows human diseases associated to Aspm by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Microcephaly 5, Primary, Autosomal Recessive		Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the...	OMIM:608716
Autosomal Recessive Primary Microcephaly		Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Pachygyria, Agenesis of c...	ORPHA:2512

The table below shows human diseases predicted to be associated to Aspm by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 65	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619712
Spermatogenic Failure 56	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619515
Spermatogenic Failure, X-Linked, 3	Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short...	OMIM:301059
Spermatogenic Failure 51	Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot...	OMIM:619177
Spermatogenic Failure 54	Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel...	OMIM:619379
Spermatogenic Failure 58	Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ...	OMIM:619585
Spermatogenic Failure 40	Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse...	OMIM:618664
Spermatogenic Failure 39	Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili...	OMIM:618643
Spermatogenic Failure 63	Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility	OMIM:619689
Spermatogenic Failure 47	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella	OMIM:619102
Spermatogenic Failure 72	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s...	OMIM:619867
Partial Chromosome Y Deletion	Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ...	ORPHA:1646
Spermatogenic Failure 46	Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell...	OMIM:619095
Spermatogenic Failure 41	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid...	ORPHA:529970
Spermatogenic Failure 11	Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 7	Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 43	Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai...	OMIM:618751
Spermatogenic Failure 49	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619094
Spermatogenic Failure 42	Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma...	OMIM:618745
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi...	ORPHA:79506
Spermatogenic Failure 64	Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility	OMIM:619696
Spermatogenic Failure 70	Azoospermia, Oligospermia, Male infertility, Reduced sperm motility	OMIM:619828
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Spermatogenic Failure 1	Cryptozoospermia, Oligospermia, Male infertility	OMIM:258150
Spermatogenic Failure 35	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618341
Spermatogenic Failure 33	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618152
Spermatogenic Failure 34	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618153
Spermatogenic Failure 18	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617576
Spermatogenic Failure 19	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617592
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility	OMIM:619108
Spermatogenic Failure 24	Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta...	OMIM:617959
Spermatogenic Failure 20	Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Isolated Follicle Stimulating Hormone Deficiency	Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy...	ORPHA:52901
Spermatogenic Failure 21	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 25	Azoospermia, Cryptozoospermia, Decreased testicular size	OMIM:617960
Spermatogenic Failure 22	Cryptozoospermia, Male infertility, Non-obstructive azoospermia	OMIM:617706
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Immotile sperm, Abnormal sperm morphology	OMIM:608653
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi...	OMIM:611102
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 38	Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti...	OMIM:618433
Spermatogenic Failure 8	Azoospermia, Oligospermia, Cryptozoospermia	OMIM:613957
Spermatogenic Failure 10	Infertility, Abnormal sperm morphology	OMIM:614822
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia	OMIM:232700
Spermatogenic Failure 30	Azoospermia, Cryptozoospermia	OMIM:618110
Spermatogenic Failure 5	Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa	OMIM:243060
Spermatogenic Failure 57	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size	OMIM:619145
Isochromosomy Yp	Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ...	ORPHA:98797
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Spermatogenic Failure 26	Infertility, Acephalic spermatozoa	OMIM:617961
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Azoospermia, Microcephaly, Male hypogonadism	OMIM:241000
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula...	ORPHA:399808
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Isochromosomy Yq	Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins...	ORPHA:98798
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619672
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Spermatogenic Failure 73	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:108420
Spermatogenic Failure 12	Azoospermia, Infertility, Abnormal male germ cell morphology	OMIM:615413
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m...	ORPHA:261529
Familial Male-Limited Precocious Puberty	Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism	ORPHA:3000
Premature Ovarian Failure 5	Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda...	OMIM:611548
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Spermatogenic Failure 32	Azoospermia, Infertility	OMIM:618115
Spermatogenic Failure 23	Azoospermia, Infertility	OMIM:617707
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia	OMIM:610947
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In...	ORPHA:399805
Diarrhea 7, Protein-Losing Enteropathy Type	Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia	OMIM:615863
Premature Ovarian Failure 10	Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo...	OMIM:612885
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Generalized ...	OMIM:612526
Hyperlipidemia, Familial Combined, 3	Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co...	OMIM:144250
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure, X-Linked, 2	Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon...	OMIM:300510
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Citrullinemia, Type Ii, Neonatal-Onset	Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi...	OMIM:605814
Congenital Disorder Of Glycosylation, Type Iip	Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper...	OMIM:616829
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst...	OMIM:616000
Spermatogenic Failure 6	Globozoospermia, Male infertility, Decreased acrosin in sperm head	OMIM:102530
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame...	OMIM:617565
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Thrombocytopenic Purpura, Autoimmune	Thrombocytopenia	OMIM:188030
Hypogonadism, Male	Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis	OMIM:241100
Leydig Cell Hypoplasia	Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the...	ORPHA:755
Ovarian Dysgenesis 10	Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am...	OMIM:619834
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Azoospermia, Testicular microlithiasis, Micropenis, O...	OMIM:228300
Cholestasis, Progressive Familial Intrahepatic, 10	Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal...	OMIM:619868
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Premature Ovarian Failure 6	Hypoplasia of the uterus, Female infertility, Streak ovary, Elevated circulating luteinizing horm...	OMIM:612310
Spinocerebellar Ataxia Type 32	Azoospermia, Testicular atrophy, Male infertility	ORPHA:276183
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level...	OMIM:619203
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level...	OMIM:619665
Thrombocytopenia 7	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619130
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Macroorchidism	OMIM:300886
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility	ORPHA:48
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the uterus, Decreased serum testosterone concentration, Hypoplasia of the ovary, Mi...	OMIM:614841
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Spermatogenic Failure 29	Azoospermia	OMIM:618091
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Spermatogenic Failure 14	Azoospermia	OMIM:615842
Deleted in azoospermia	Azoospermia	OMIM:400003
Premature Ovarian Failure 8	Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:615723
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia, Multiple lipomas	ORPHA:529
Amegakaryocytic Thrombocytopenia, Congenital	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest...	OMIM:620058
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c...	ORPHA:168563
Prolactin Deficiency With Obesity And Enlarged Testes	Reduced circulating prolactin concentration, Macroorchidism	OMIM:264120
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol...	OMIM:607616
Bone Marrow Failure Syndrome 5	Microcephaly, Testicular atrophy, Hypogonadism	OMIM:618165
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Autosomal Recessive Spastic Paraplegia Type 46	Infertility, Cerebral cortical atrophy, Cerebral atrophy, Reduced sperm motility, Corpus callosum...	ORPHA:320391
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Hypergonadotropic Hypogonadism And Partial Alopecia	Hypergonadotropic hypogonadism, Streak ovary	OMIM:241090
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia	ORPHA:231393
Sitosterolemia 1	Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Impaired platelet aggregation, C...	OMIM:210250
Normosmic Congenital Hypogonadotropic Hypogonadism	Increased female libido, Hypoplasia of the uterus, Impotence, Decreased serum testosterone concen...	ORPHA:432
Adrenal Hypoplasia, Congenital	Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub...	OMIM:300200
Partington Syndrome	Macroorchidism	ORPHA:94083
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh...	OMIM:618841
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Functioning Gonadotropic Adenoma	Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad...	ORPHA:91348
Temple Syndrome	Flexion contracture, Small for gestational age, Truncal obesity, Hypertriglyceridemia, Hyperchole...	OMIM:616222
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Premature ovarian insufficiency	OMIM:609993
46,Xx Gonadal Dysgenesis	Streak ovary, Microcephaly, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the ute...	ORPHA:243
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul...	OMIM:229070
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Growth Hormone Insensitivity Syndrome	Failure to thrive, Truncal obesity, Hypercholesterolemia	ORPHA:181393
Mccune-Albright Syndrome	Increased serum testosterone level, Precocious puberty, Abnormal endocrine physiology, Abnormalit...	ORPHA:562
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, T...	OMIM:615285
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr...	OMIM:614837
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia	ORPHA:75234
Kennedy Disease	Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility	ORPHA:481
47,Xyy Syndrome	Increased serum testosterone level, Hydrocephalus, Cryptorchidism, Micropenis, Hypospadias, Oligo...	ORPHA:8
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated circulating c...	OMIM:616828
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:616950
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Azoospermia, Obstructive, With Nephrolithiasis	Spermatocele, Obstructive azoospermia, Male infertility	OMIM:301060
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism	OMIM:610539
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi...	OMIM:603552
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Bleeding Disorder, Platelet-Type, 16	Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane...	OMIM:187800
Perrault Syndrome 4	Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Oligomenorrhea, Primary ame...	OMIM:615300
46,Xy Partial Gonadal Dysgenesis	Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h...	ORPHA:251510
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Apolipoprotein C-Ii Deficiency	Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr...	OMIM:207750
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma...	ORPHA:983
Congenital Analbuminemia	Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop...	ORPHA:86816
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:66628
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Malaria	Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia	ORPHA:673
Satoyoshi Syndrome	Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Mi...	ORPHA:3130
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,...	OMIM:613101
Bleeding Disorder, Platelet-Type, 24	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619271
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:179494
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Spermatogenic Failure 28	Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul...	OMIM:618086
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Erythroleukemia, Familial, Susceptibility To	Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia	OMIM:133180
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Mandibuloacral Dysplasia	Increased adipose tissue around the neck, Lipoatrophy, Increased circulating free fatty acid leve...	ORPHA:2457
Non-Functioning Pituitary Adenoma	Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp...	ORPHA:91349
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,...	OMIM:194072
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o...	ORPHA:289548
Young Syndrome	Azoospermia	OMIM:279000
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility	OMIM:619436
Frasier Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo...	ORPHA:347
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Hypoplasia of the olfactory bulb, Decreased serum testosterone concentration, Micropenis, Decreas...	OMIM:614897
Lysosomal Acid Lipase Deficiency	Failure to thrive, Increased LDL cholesterol concentration, Steatorrhea, Splenomegaly, Hepatosple...	OMIM:278000
Lipodystrophy, Familial Partial, Type 2	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Loss of truncal su...	OMIM:151660
Ciliary Dyskinesia, Primary, 34	Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti...	OMIM:617091
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi...	ORPHA:2235
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair...	OMIM:173590
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
46,Xy Sex Reversal 7	Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe...	OMIM:233420
Cog4-Cdg	Hepatosplenomegaly, Thrombocytopenia, Failure to thrive in infancy, Hypercholesterolemia	ORPHA:263501
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Bleeding Disorder, Platelet-Type, 15	Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis	OMIM:615193
X-Linked Intellectual Disability, Wilson Type	Hydrocele testis, Lateral ventricle dilatation	ORPHA:85290
Abdominal Obesity-Metabolic Syndrome 3	Abdominal obesity, Truncal obesity, Hypercholesterolemia	OMIM:615812
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity, Hypercholesterolemia	ORPHA:254531
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Forsythe-Wakeling Syndrome	Decreased body weight, Thrombocytopenia	OMIM:613606
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia	OMIM:141000
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Infertility, Impotence, Decreased serum testosterone concentration, Cryptorchidism, Small pituita...	ORPHA:2232
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hypergonadotropic hypogonadism, Azoospermia, Leukoencephalopathy	OMIM:613724
Androgen Insensitivity, Partial	Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona...	OMIM:312300
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1, ...	ORPHA:85327
Pituitary Dermoid And Epidermoid Cysts	Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ...	ORPHA:91351
Hyperlipoproteinemia, Type I	Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Polyembryoma	Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve...	ORPHA:180229
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Chylomicron Retention Disease	Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp...	OMIM:246700
Galactokinase Deficiency	Failure to thrive, Small for gestational age, Hepatosplenomegaly, Increased level of galactitol i...	ORPHA:79237
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia	ORPHA:169079
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent outer dynein arms, Immotile sperm	OMIM:614874
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye...	OMIM:619041
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc...	ORPHA:75564
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona...	OMIM:308700
Congenital Hydrocephalus	Hydrocephalus, Colpocephaly, Ventriculomegaly	ORPHA:2185
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Spondylometaphyseal Dysplasia, Axial	Reduced sperm motility	OMIM:602271
Congenital Generalized Lipodystrophy	Failure to thrive, Increased C-peptide level, Hypertriglyceridemia, Lipodystrophy, Adipose tissue...	ORPHA:528
Folate Malabsorption, Hereditary	Failure to thrive, Leukopenia, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia	OMIM:229050
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Laron Syndrome	Truncal obesity, Hypercholesterolemia	ORPHA:633
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi...	OMIM:155100
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Elevated circulating creatine kinase concentration, Amelogenesis imperfecta, T...	OMIM:614727
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligospermia	OMIM:314300
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Ciliary Dyskinesia, Primary, 12	Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce...	OMIM:612650
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei...	ORPHA:158057
Partial Androgen Insensitivity Syndrome	Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito...	ORPHA:90797
Spermatogenic Failure, X-Linked, 4	Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein...	OMIM:301077
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia, Lipoatrophy	ORPHA:141184
Fragile X Syndrome	Macroorchidism	ORPHA:908
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Atkin-Flaitz Syndrome	Macroorchidism	OMIM:300431
Ciliary Dyskinesia, Primary, 14	Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ...	OMIM:613807
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Ciliary Dyskinesia, Primary, 26	Infertility, Absent outer dynein arms, Reduced sperm motility	OMIM:615500
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Microcephaly 5, Primary, Autosomal Recessive	Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the...	OMIM:608716
Morgagni-Stewart-Morel Syndrome	Obesity, Hyperuricemia, Hypercholesterolemia	ORPHA:77296
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility, Absent vas deferens	OMIM:277180
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ...	OMIM:616050
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto...	OMIM:159550
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:209902
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Lead Poisoning	Infertility, Decreased male libido, Reduced sperm motility, Small for gestational age, Oligosperm...	ORPHA:330015
Xp22.13P22.2 Duplication Syndrome	Polycystic ovaries, Macroorchidism	ORPHA:284180
Smith-Magenis Syndrome	Hypertriglyceridemia, Increased body weight, Hypercholesterolemia	OMIM:182290
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility	OMIM:612649
Fanconi Anemia, Complementation Group T	Anemia, Thrombocytopenia, Pancytopenia	OMIM:616435
Slc35A1-Cdg	Cellulitis, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules	ORPHA:238459
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c...	ORPHA:247598
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia	OMIM:208920
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Obesity, Small for gestational age, Truncal obesity, Hypercholesterolemia	ORPHA:96184
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Macroorchidism	OMIM:300055
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Flexion contracture, Splenomegaly, Hypertriglyceridemia, Lipodyst...	OMIM:617591
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c...	OMIM:267700
Kallmann Syndrome With Spastic Paraplegia	Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Hyp...	OMIM:308750
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Proteasome-Associated Autoinflammatory Syndrome 2	Failure to thrive, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Lipo...	OMIM:618048
Bardet-Biedl Syndrome	Hypoplasia of the ovary, Hypoplasia of penis, Hypogonadism, Obesity, Cryptorchidism	ORPHA:110
Wt Limb-Blood Syndrome	Hypoplastic anemia, Joint contracture of the 5th finger, Pancytopenia, Thrombocytopenia, Leukemia	OMIM:194350
Immunodeficiency 46	Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Fanconi Anemia, Complementation Group V	Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Transcobalamin Deficiency	Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia	ORPHA:859
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Citrullinemia Type Ii	Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D...	ORPHA:247585
Ciliary Dyskinesia With Defective Radial Spokes	Immotile sperm, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
Generalized Glucocorticoid Resistance Syndrome	Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c...	ORPHA:786
Leishmaniasis	Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Hypoalbuminemia, Pancytope...	ORPHA:507
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia	ORPHA:401923
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ...	OMIM:231200
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine	ORPHA:54057
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Anemia, Thrombocytopenia, Incre...	ORPHA:101028
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Omenn Syndrome	Failure to thrive, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe ...	OMIM:603554
Hemochromatosis, Type 1	Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo...	OMIM:235200
Dysbetalipoproteinemia	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	ORPHA:412
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Ciliary Dyskinesia, Primary, 15	Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm	OMIM:613808
Myotonic Dystrophy 2	Type II diabetes mellitus, Oligospermia, Hypogonadism, Elevated circulating follicle stimulating ...	OMIM:602668
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Mandibuloacral Dysplasia With Type A Lipodystrophy	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperlipidemia, Fl...	OMIM:248370
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Agenesis of corpus callosum, Macroorchidism	OMIM:309520
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Thrombocytopenia	ORPHA:67048
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Male pseudohermaphrod...	ORPHA:90790
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Inguinal hernia, Elevated circulating propionylcarnitine concentration, Hypome...	OMIM:614857
Preeclampsia	Small for gestational age, Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Lymphoproliferative Syndrome 1	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:613011
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie...	OMIM:619802
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ...	ORPHA:64753
Isolated Agammaglobulinemia	Failure to thrive, Cellulitis, Abnormal lymphocyte morphology, Abnormality of neutrophils, Anemia...	ORPHA:229717
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila...	ORPHA:1772
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Splenomegaly, Hyperammonemia, Neutropenia, Anemia, Thrombocytopenia	ORPHA:79312
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia, Hypercalcemia	ORPHA:2123
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei...	ORPHA:158061
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos...	OMIM:308240
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Failure to thrive, Macrocephaly, Small for gestational age, Microcephaly, Oligospermia, Clitoral ...	OMIM:614813
Aromatase Deficiency	Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Hypergonadotropic hyp...	ORPHA:91
+173470 integrin, beta-3	Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ...	OMIM:173470
Ciliary Dyskinesia, Primary, 22	Infertility, Absent inner and outer dynein arms, Reduced sperm motility	OMIM:615444
Gaucher Disease, Type Iii	Decreased body weight, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Genitourinary And/Or Brain Malformation Syndrome	Urogenital sinus anomaly, Chordee, Gray matter heterotopia, Dysplastic corpus callosum, Macroceph...	OMIM:618820
Rhabdoid Tumor	Weight loss, Anemia, Thrombocytopenia, Hypercalcemia	ORPHA:69077
Beta-Thalassemia	Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th...	ORPHA:848
Systemic Lupus Erythematosus 17	Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:301080
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio...	OMIM:619662
Hypobetalipoproteinemia, Familial, 1	Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc...	OMIM:615558
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia	OMIM:598500
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:314050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co...	OMIM:235400
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia	ORPHA:27
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Camptodactyly	OMIM:619751
Hereditary Amyloidosis With Primary Renal Involvement	Oligospermia, Male infertility, Hypogonadism, Weight loss, Abnormal testis morphology, Primary te...	ORPHA:85450
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy, Cerebral atrophy, Hypogonadism	OMIM:160900
Fechtner syndrome	Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets	OMIM:153640
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Thrombocytopenia	OMIM:617021
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia, Hyperammonemia	ORPHA:289916
Specific Granule Deficiency 2	Failure to thrive, Neutropenia, Anemia, Thrombocytopenia, Amelogenesis imperfecta, Absent neutrop...	OMIM:617475
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Decreased serum testosterone concentration, Hyperinsulinemia, Decreased...	ORPHA:3464
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal ery...	ORPHA:264580
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism	ORPHA:324410
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ...	ORPHA:90791
46,Xx Sex Reversal 2	Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B...	OMIM:278850
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr...	ORPHA:35858
Gaisböck Syndrome	Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Increased circulating renin l...	ORPHA:90041
Amed Syndrome, Digenic	Failure to thrive, Leukopenia, Anemia, Thrombocytopenia, Acute myeloid leukemia	OMIM:619151
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal...	OMIM:601399
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia	OMIM:616176
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Pelger-Huet Anomaly	Failure to thrive, Neutropenia, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils...	OMIM:169400
Smith-Magenis Syndrome	Hypertriglyceridemia, Obesity, Failure to thrive in infancy, Hypercholesterolemia	ORPHA:819
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia	OMIM:613845
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Splenomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperchol...	ORPHA:79240
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal ery...	ORPHA:370
Congenital Toxoplasmosis	Anemia, Thrombocytopenia, Failure to thrive in infancy	ORPHA:858
46,Xx Sex Reversal 1	Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo...	OMIM:400045
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hemophagocytosi...	OMIM:603553
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Low Phospholipid-Associated Cholelithiasis	Obesity, Overweight, Hypercholesterolemia	ORPHA:69663
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Thrombocytopenia	OMIM:614946
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens	OMIM:300985
Primary Myelofibrosis	Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy...	ORPHA:824
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612926
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:610333
Gapo Syndrome	Amenorrhea, Oligospermia, Dysmenorrhea, Hypogonadism	ORPHA:2067
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Flexion contracture	OMIM:612952
Gaucher Disease, Type Ii	Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly	OMIM:230900
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Thrombocytopenia, Lymphopenia	OMIM:616744
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612922
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hypercholesterolemia	ORPHA:90065
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Immunodeficiency 47	Failure to thrive, Splenomegaly, Leukopenia, Accessory spleen, Normocytic anemia, Decreased circu...	OMIM:300972
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Macroorchidism	OMIM:618874
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Neutropenia, Hyperammonemia, Hyperglycinemia, Methylmalonic acidemia, Pancytop...	OMIM:251110
X-Linked Agammaglobulinemia	Failure to thrive, Hypocalcemia, Cellulitis, Weight loss, Neutropenia, Anemia, Thrombocytopenia	ORPHA:47
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hyperammonemia, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Neutropen...	OMIM:251000
Carney Complex	Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a...	ORPHA:1359
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Failure to thrive, Increased LDL cholesterol concen...	ORPHA:470
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Leukopenia, Thrombocytopenia	OMIM:614171
Ciliary Dyskinesia, Primary, 5	Reduced sperm motility	OMIM:608647
Refractory Anemia With Excess Blasts	Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula...	ORPHA:86839
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia	OMIM:254900
Babesiosis	Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly	ORPHA:108
Congenital Disorder Of Glycosylation, Type Ih	Failure to thrive, Camptodactyly, Elevated circulating creatinine concentration, Hypoalbuminemia,...	OMIM:608104
Immunodeficiency 91 And Hyperinflammation	Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago...	OMIM:619644
Bone Marrow Failure Syndrome 4	Anemia, Thrombocytopenia, Leukopenia	OMIM:618116
Drug-Induced Lupus Erythematosus	Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci...	ORPHA:231111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612925
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Increased pi...	ORPHA:90674
Relapsing Fever	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In...	ORPHA:91547
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Neutropenia, Hyperammonemia, Hyperglycinemia, Methylmalonic acidemia, Pancytop...	OMIM:251100
Cach Syndrome	Primary amenorrhea, Gonadal dysgenesis, Lateral ventricle dilatation, Secondary amenorrhea, Prema...	ORPHA:135
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Propionic Acidemia	Failure to thrive, Neutropenia, Hyperammonemia, Hyperglycinemia, Pancytopenia, Anemia, Thrombocyt...	OMIM:606054
Lysosomal Acid Lipase Deficiency	Failure to thrive, Vacuolated lymphocytes, Steatorrhea, Cachexia, Hepatosplenomegaly, Hypertrigly...	ORPHA:275761
Idiopathic Aplastic Anemia	Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:88
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia	OMIM:618624
Isovaleric Acidemia	Leukopenia, Thrombocytopenia, Pancytopenia	OMIM:243500
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Hepatosplenomegaly, Thrombocytopenia	ORPHA:210136
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia	OMIM:603585
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H...	ORPHA:158048
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Reduced progressive sperm motility	OMIM:619608
Congenital Disorder Of Glycosylation, Type Iig	Anemia, Thrombocytopenia, Failure to thrive in infancy, Camptodactyly	OMIM:611209
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis	OMIM:300367
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Megaloblastic anemia, Failure to thrive, Neutropenia, Hyperhomocystinemia, Cystathioninemia, Meth...	OMIM:277380
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ...	ORPHA:95699
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Colpocephaly, Ventriculomegaly	ORPHA:261250
Stormorken Syndrome	Elevated circulating creatine kinase concentration, Anemia, Thrombocytopenia, Asplenia, Howell-Jo...	OMIM:185070
Alg8-Cdg	Failure to thrive, Small for gestational age, Camptodactyly, Abnormality of subcutaneous fat tiss...	ORPHA:79325
Stt3B-Cdg	Failure to thrive, Thrombocytopenia	ORPHA:370924
Aggressive Systemic Mastocytosis	Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I...	ORPHA:98850
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Fetal Gaucher Disease	Flexion contracture, Splenomegaly, Abnormality of the spleen, Arthrogryposis multiplex congenita,...	ORPHA:85212
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Colpocephaly, Ventriculomegaly, Communicating hydrocephalus	OMIM:615219
Megalocornea-Mental Retardation Syndrome	Hypercholesterolemia	OMIM:249310
Trisomy 20P	Hypospadias, Cryptorchidism, Macroorchidism	ORPHA:261318
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Weight loss, ...	ORPHA:3226
Bleeding Disorder, Platelet-Type, 17

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Gene: Aspm MGI:1334448

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Human diseases caused by Aspm mutations