Anemia, and Micropenis

Diseases related with Anemia and Micropenis

In the following list you will find some of the most common rare diseases related to Anemia and Micropenis that can help you solving undiagnosed cases.


Top matches:

Medium match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV


Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV Is also known as cda, type iv|cda type 4|congenital dyserythropoietic anemia due to klf1 mutation|cda iv|cdan4|congenital dyserythropoietic anemia type 4|cda type iv|cda due to klf1 mutation

Related symptoms:

  • Short stature
  • Hypertelorism
  • Anemia
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

Medium match PITUITARY STALK INTERRUPTION SYNDROME


Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.

PITUITARY STALK INTERRUPTION SYNDROME Is also known as psis|ectopic neurohypophysis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PITUITARY STALK INTERRUPTION SYNDROME

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

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Other less relevant matches:

Medium match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Medium match AICARDI-GOUTIÈRES SYNDROME


Aicardi-Goutières syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.

AICARDI-GOUTIÈRES SYNDROME Is also known as encephalopathy with basal ganglia calcification|encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AICARDI-GOUTIÈRES SYNDROME

Medium match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Medium match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Medium match ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX


ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

Medium match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Medium match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Top 5 symptoms//phenotypes associated to Anemia and Micropenis

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Micropenis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Seizures Hypertelorism Cryptorchidism Abnormal facial shape Strabismus Cataract Hypothyroidism Sensorineural hearing impairment Generalized hypotonia Wide nasal bridge Hypospadias Long philtrum Cardiomyopathy Neoplasm Intrauterine growth retardation Hypertonia Thrombocytopenia Hydronephrosis Microtia Hearing impairment Intellectual disability, severe Anteverted nares Nystagmus Depressed nasal bridge Ptosis Micrognathia Postnatal growth retardation Epicanthus Flexion contracture Spasticity Hepatomegaly Short nose Abnormality of the genital system Muscular hypotonia Obesity High forehead

Rare Symptoms - Less than 30% cases


Muscular hypotonia of the trunk Cerebral cortical atrophy Single transverse palmar crease Hypoplasia of the corpus callosum Broad nasal tip Underdeveloped nasal alae Pain Hyperreflexia Feeding difficulties Skin rash Irritability Congenital cataract Intellectual disability, profound Microcytic anemia Renal agenesis Cognitive impairment Severe short stature Clinodactyly Midface retrusion Diabetes mellitus Ventricular septal defect Small for gestational age Hemoglobin H Reduced alpha/beta synthesis ratio Dilated cardiomyopathy Hypochromic microcytic anemia Protruding tongue Radial deviation of finger Postnatal microcephaly Convex nasal ridge Macroglossia Intellectual disability, moderate Hernia Malar flattening Talipes equinovarus Fatigue Sloping forehead Broad forehead Abnormality of the liver Elevated hepatic transaminase Ventriculomegaly High palate Low-set ears Downturned corners of mouth Cerebral calcification Prominent nasal bridge Microphthalmia Hypertension Rectovaginal fistula Depressed nasal tip Bone marrow hypocellularity Cafe-au-lait spot Renal hypoplasia Anal atresia Short neck Downslanted palpebral fissures Short philtrum Hypoplasia of penis Delayed puberty Jaundice Hyperbilirubinemia Hypertrophic cardiomyopathy Splenomegaly Edema Brachydactyly Hydroureter Telecanthus Retinopathy Epidermal acanthosis Long nose Limb undergrowth Cerebellar vermis atrophy Growth hormone deficiency Intestinal malrotation Generalized muscle weakness Sparse scalp hair Abnormality of lipid metabolism Abdominal distention Hypoplasia of the maxilla Delayed eruption of teeth Hepatic failure Apraxia Malabsorption Microdontia Cholestasis Increased circulating gonadotropin level Oligodontia Clitoral hypertrophy Sensory axonal neuropathy Portal hypertension High pitched voice Ectopic kidney Abnormality of the genitourinary system Cortical gyral simplification Truncal obesity Widely spaced teeth Severe muscular hypotonia Pointed chin Hypocalcemia Abnormality of the nail Situs inversus totalis Hypotrichosis Misalignment of teeth Low hanging columella U-Shaped upper lip vermilion Hypoganglionosis Endometriosis Bradykinesia Widely-spaced maxillary central incisors Triangular mouth Absent frontal sinuses Abnormal hemoglobin Abnormality of the dentition Ileus Perimembranous ventricular septal defect Decreased serum testosterone level Volvulus Chronic constipation Facial hypotonia Atrial septal defect Hypotelorism Congenital sensorineural hearing impairment Pigmentary retinopathy Shuffling gait Abnormal cardiac septum morphology Cleft lip Chronic lung disease Joint laxity Glioma Upslanted palpebral fissure Dilatation Multinodular goiter Gastrointestinal stroma tumor Alopecia Clinodactyly of the 5th finger Delayed skeletal maturation Abnormal heart morphology Abnormality of cardiovascular system morphology Bilateral cryptorchidism Dextrocardia Sparse hair Gait disturbance Pes cavus Goiter Babinski sign Inguinal hernia Recurrent infections Immunodeficiency Tremor Male pseudohermaphroditism Dysarthria Peripheral neuropathy Delayed speech and language development Ataxia Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Leukopenia Hypogonadism Abnormality of the female genitalia Insulin resistance Cutaneous photosensitivity Abnormal pyramidal sign Broad-based gait Attention deficit hyperactivity disorder Hypermetropia Abnormal lung morphology Lymphopenia Mandibular prognathia Synophrys Dysmetria Hypergonadotropic hypogonadism Rigidity Short chin Acanthosis nigricans Deeply set eye Urethrovaginal fistula Malrotation of small bowel Steatorrhea Fair hair Lacrimation abnormality Abnormality of the pancreas Hypoproteinemia Abnormal hair pattern Unilateral renal agenesis Decreased testicular size Exocrine pancreatic insufficiency Progressive cerebellar ataxia Anal stenosis Facial cleft Hypoplastic nipples Hypopituitarism Anteriorly placed anus Glycosuria Agenesis of permanent teeth Abnormal vagina morphology Aplasia cutis congenita of scalp Anasarca Sensory neuropathy Septate vagina Absent lacrimal punctum Long face Falls Increased VLDL cholesterol concentration Colonic diverticula Slurred speech Skin dimples Polyneuropathy Dysdiadochokinesis Abnormality of the nares Uterus didelphys Frontal upsweep of hair Triangular face Postural tremor Calvarial skull defect Polycystic kidney dysplasia Shawl scrotum Congenital ptosis Delayed myelination Dry skin Feeding difficulties in infancy Cutaneous syndactyly between fingers 2 and 5 Multiple exostoses Parietal foramina Craniofacial dysostosis Choreoathetosis Sparse lateral eyebrow Decreased skull ossification Exostoses Turricephaly Aniridia Self-injurious behavior Nephroblastoma Increased serum lactate Lower limb spasticity Cutaneous syndactyly Central hypotonia Chilblains CSF lymphocytic pleiocytosis Arrhinencephaly Porencephalic cyst Immune dysregulation Eyelid coloboma Thrombocytosis Leukodystrophy Arthropathy Basal ganglia calcification Hemiplegia/hemiparesis Toe walking Scaling skin Leukoencephalopathy Plagiocephaly Sparse eyebrow Wormian bones Visual impairment Hypoglycemia Ectopic posterior pituitary Abnormality of the hypothalamus-pituitary axis Adrenal hypoplasia Diabetes insipidus Primary amenorrhea Hypotension Erythroid hyperplasia Abnormality of the pituitary gland Congenital hypoplastic anemia Normochromic anemia Fetal distress Anemia of inadequate production Reticulocytosis Wide anterior fontanel Hydrops fetalis Septo-optic dysplasia Cleft palate Prominent nose Forearm undergrowth Autistic behavior Autism Brachycephaly Syndactyly Behavioral abnormality Myopia Hypoplastic sacrum Abnormality of chromosome stability Hydrocephalus Chromosome breakage Esophageal atresia Absent thumb Tracheoesophageal fistula Hypoplasia of the radius Full cheeks Leukemia Deep white matter hypodensities Fever Spastic diplegia Neurocytoma Pneumonia Constipation Abnormality of metabolism/homeostasis Cerebral atrophy Vomiting Dysphagia Triangular nasal tip Abdominal pain Flat forehead Hypochromic anemia Asymmetry of the thorax Aplasia/Hypoplasia of the earlobes Brain neoplasm Osteosarcoma Myelomeningocele Posteriorly rotated ears Gastroesophageal reflux Aplasia/Hypoplasia of the eyebrow Recurrent urinary tract infections Tented upper lip vermilion Infantile muscular hypotonia Drooling Hemivertebrae Coxa valga Aspiration Aganglionic megacolon Thick lower lip vermilion Kyphoscoliosis Ambiguous genitalia Dental malocclusion Tapered finger Everted lower lip vermilion Thick vermilion border Flat face Umbilical hernia Underdeveloped supraorbital ridges Supernumerary nipple Renal insufficiency Neuronal loss in central nervous system Opacification of the corneal stroma Cerebral visual impairment Decreased liver function Pachygyria Tetraparesis Status epilepticus Gliosis Purpura Tetraplegia Polymicrogyria Abnormality of movement Generalized tonic-clonic seizures Corneal opacity Hepatosplenomegaly Cerebellar hypoplasia Microretrognathia Spastic tetraparesis Spina bifida Abnormality of the kidney Short toe Dental crowding Webbed neck Bruising susceptibility Talipes Neurological speech impairment Pectus carinatum Low-set, posteriorly rotated ears Lissencephaly Retrognathia Patent ductus arteriosus Respiratory distress Frontal bossing Congenital microcephaly Increased CSF protein Petechiae Long neck



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Upslanted palpebral fissure, related diseases and genetic alterations Arthritis and Myoclonus, related diseases and genetic alterations Hydrocephalus and Kyphosis, related diseases and genetic alterations Obesity and Colitis, related diseases and genetic alterations Spasticity and Urinary incontinence, related diseases and genetic alterations

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